Glossary for Vision loss

Medical terms related to Vision loss or mentioned in this section include:

• $2-Hydroxyglutaricaciduria$: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
• $3 alpha methylglutaconicaciduria, type 3$: A rare genetic condition where a gene mutation prevents the production of certain protein which leads to a build-up of an acid (3-methylglutaconic acid) which can have a negative impact on the body. The condition is characterized mainly by damage to the optic nerve.
• Absence of septum pellucidum and septo-optic dysplasia: A rare birth defect where a thin membrane in the middle of the brain is missing. This brain abnormality is never present on it's own but is a characteristic of septo-optic dysplasia where the patient also has optic disk abnormalities and pituitary deficiencies.
• Absence of septum pellucidum with porencephalia syndrome: A rare syndrome present at birth and characterized by the absence of the thin membrane in the middle of the brain (septum pellucidum) as well as abnormal cavities in the brain (porencephaly). The syndrome also involves other structural brain abnormalities.
• Acanthamoeba infection: Infection with a microscopic, free-living ameba that is readily found in the environment - soil, air and water. Most people exposed to the ameba will not become infected but when infections do occur, they tend to affect the eyes, central nervous system or can cause widespread infection throughout the body.
• Acanthamoeba infection of the eye: Infection by an amoebic organism called Acanthamoeba. Infection usually occurs when the amoeba enters through a break in the skin or through the nose. Infection can be localized or systemic where it can involve the central nervous system and cause potentially fatal meningoencephalitis. Infection of the eye can occur by cleaning contact lenses in contaminated water.
• Acanthamoeba keratitis: Infection of the eye with a microscopic, free-living ameba (Acanthamoeba) that is readily found in the environment - soil, air and water. Infection most often occurs through exposure to contaminated water while wearing contact lenses e.g. swimming or showering in infected waters.
• Accidental Eye Injury: The accidental injury to an eye
• Achromatopsia: Patients who have achromatopsia (sometimes called achromatopia) do not have normal "cone vision.". Although the term may refer to acquired disorders such as color agnosia and cerebral achromatopsia, it typically refers to an autosomal recessive congenital color vision disorder, the inability to perceive color AND to achieve satisfactory visual acuity at high light levels (typically exterior daylight).
• Achromatopsia 4: A rare form of colorblindness involving various cone and cone-rod dystrophies which becomes apparent during or after adolescence.
• Achromatopsia incomplete, X-linked: An inherited form of blue color blindness.
• Achromatopsia type 4: A rare form of colorblindness involving various cone and cone-rod dystrophies which becomes apparent during or after adolescence.
• Acromegaloid changes, cutis verticis gyrata and corneal leukoma: A rare disorder characterized by acromegaly (enlarged extremeties) , furrowed skin on scalp and face and corneal leukomas.
• Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome: A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma.
• Acute Disseminated Encephalomyelitis: A type of encephalitis that usually follows an acute viral infection and involves an immune attack on myelin tissue which is part of the nervous system. Initial symptoms include fever, headache, vomiting and drowsiness followed by seizures, coma and paralysis. Often results in permanent neurological disorders.
• Acute blindness: An acute loss of vision
• Acute headache: Headache, or cephalgia, is defined as diffuse pain in various parts of the head, with the pain not confined to the area of distribution of a nerve.
• Acute posterior multifocal placoid pigment: A rare eye disease where the central vision in one or both eyes is affected by inflammation or fluid build up in the retina. The retina lies at the back of the eye. Symptoms such as fever, headache and malaise often precede the eye symptoms. The cause of the condition is unknown but may have autoimmune origins.
• Acute retinal necrosis syndrome: An acute infection of the eye usually caused by the chicken pox virus (varicella-zoster), herpes simplex or cytomegalovirus. One or both eyes may be involved.
• Adnexal and Skin Appendage Neoplasms: A type of tumour that develops on particular organs - eyes, skin and uterus. The tumors are usually benign but some may become malignant. The symptoms will vary depending on the location of the tumor and whether it is benign or malignant. These type of tumors tend to be most common in middle-aged women.
• Age-related macular degeneration: Deterioration of the central field of vision.
• Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
• Albinism ocular late onset sensorineural deafness: A rare inherited condition characterized by a lack of eye pigmentation and deafness that usually starts in middle-age. Severity of symptoms is variable.
• Albinism, ocular, autosomal recessive: A rare inherited condition characterized by reduced eye pigmentation with normal, or near normal hair and skin pigmentation.
• Alezzandrini syndrome: A rare condition involving degenerative eye disease in one eye, followed by other facial symptoms on the same side and hearing impairment. The condition progresses over months or years.
• Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• Alstrom syndrome: A rare, hereditary genetic disorder which is progressive. Initial symptoms in infants are usually extreme light sensitivity, wobbling of the eyes and sometimes dilated dilated cardiomyopathy and congestive heart failure. Young children quickly gain weight and become obese and as they get older, multiple organ systems may be affected causing blindness, hearing loss, type 2 diabetes, heart failure, liver disease, urological dysfunction, pulmonary fibrosis and renal failure.
• Alveolar Hydatid Disease: Rare multi-organ tapeworm infection caught from animals.
• Amaurosis congenita of Leber: A rare genetic eye disorder characterized by blindness at birth or within years as well as other eye abnormalities.
• Amaurosis congenita of Leber, type 1: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type I is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, RETGC1 gene.
• Amaurosis congenita of Leber, type 10: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 10 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 12, CEP290 gene.
• Amaurosis congenita of Leber, type 11: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 11 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 7q, IMPDH1 gene.
• Amaurosis congenita of Leber, type 2: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 2 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1, RPE65 gene.
• Amaurosis congenita of Leber, type 3: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 3 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
• Amaurosis congenita of Leber, type 4: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 4 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, AIPL1 gene.
• Amaurosis congenita of Leber, type 5: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 5 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 6q11-q16.
• Amaurosis congenita of Leber, type 6: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 6 is distinguished from the other forms of this condition by the genetic origin of the defect - RPGRIP1 gene.
• Amaurosis congenita of Leber, type 7: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 7 is distinguished from the other forms of this condition by the genetic origin of the defect - CRX gene.
• Amaurosis congenita of Leber, type 8: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 8 is distinguished from the other forms of this condition by the genetic origin of the defect - CRB1 gene.
• Amaurosis congenita of Leber, type 9: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 9 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1p36.
• Amaurosis fugax: A rare condition where a temporary blockage of blood flow to the retina causes vision loss in the affected eye until the blood flow returns.
• Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Amyloidosis of gingiva and conjunctiva mental retardation: A rare disorder characterized by mental retardation and abnormal amyloid deposits in the gums and conjunctiva of the eye.
• Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
• Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
• Angioid streaks: Streaks that radiate out from the optic nerve head under the retina. The streaks may be red, brown or grey. The streaks resemble blood vessels and hence the term angioid. The streaks represent tiny breaks in the elastic membrane of the retina (Bruch's membrane). The anomaly is often associated with conditions such as Paget's disease, sickle cell anemia, Ehlers-Danlos syndrome and pseudoxanthoma elasticum.
• Aniridia: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV.
• Aniridia I: A genetic disorder where part or all of the iris (except for the stump) of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV.
• Aniridia II: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV. AN-II is often associated with other eye problems such as glaucoma and nystagmus.
• Aniridia III: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV. AN-III is associated with mental retardation.
• Anisometropia: This is where there is an inequality in refractive power of the two eyes
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Anophthalmia - short stature - obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
• Anterior segment mesenchymal dysgenesis: An eye disorder caused by a genetic anomaly. The degree of vision impairment various with the severity of the condition.
• Antithrombin Deficiency: Antithrombin deficiency refers the deficiency or impaired activity of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if its activity is impaired then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot.
• Antithrombin Deficiency, type I: Type I Antithrombin deficiency refers the deficiency of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if there are insufficient quantities of it then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot. Type I may be inherited or acquired through such things as kidney or liver disease. Acquired cases tend to have a lower risk of blood clots compared to inherited cases.
• Antithrombin Deficiency, type II: Type II Antithrombin deficiency refers the malfunction of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if it is unable to function properly then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot. Type II is an inherited condition.
• Arachnoiditis: A progressive disorder where the arachnoid membrane becomes inflamed and the brain and spinal cord may also become inflamed.
• Arteriovenous Malformation: Birth defect of a tangle of veins and arteries.
• Asthenopia: A condition where weak eye muscles causes the eyes to get tired easily. Symptoms may include eye pain, headache, dim vision, dizziness and nausea.
• Atherosclerosis: A condition which is a form of arteriosclerosis where atheromas are caused by the aggregation of cholesterol and lipids
• Autoimmune Diseases of the Nervous System: A group of diseases where the body's immune system attacks it's own nervous system. Examples includes opsoclonus myoclonus syndrome, Guillain-Barre syndrome and multiple sclerosis. Symptoms vary depending on which nerves are involved.
• Autoimmune eye diseases: Eye disease that is caused by an autoimmune disease
• Autoimmune uveitis: Autoimmune inflammation of the eye's uvea.
• Avitaminosis: A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (avitaminosis A). Symptoms depend on the type and degree of vitamin deficiency. Lack of various vitamins can affect just about every part of the body including the nervous system.
• Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
• Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
• Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
• Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
• Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
• Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
• Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
• Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
• Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
• Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
• Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
• Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
• Basilar artery insufficiency syndrome: A range of symptoms caused by impaired blood flow through the basilar artery. The symptoms may come and go according to variation in blood flow through the basilar artery. The blood flow may be impaired by such things as thrombosis, narrowed artery and blood vessel spasms. Symptoms vary depending on the exact location and extent of the artery involvement as well as whether the onset is gradual or sudden.
• Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
• Batten Disease: Rare childhood genetic degenerative nerve system disease.
• Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
• Benign essential blepharospasm: A neurological disorder where certain eye muscles fail to function properly.
• Besnier-Boeck-Schaumann disease: A rare disease where inflammatory granular nodules form in various organs.
• Bessman-Baldwin syndrome: A rare disorder characterized by degeneration of the brain and the macula of the eye.
• Best Vitelliform Macular Dystrophy: Vitelliform macular dystrophy is a rare inherited eye disorder that affects the retina and often results in progressive loss of central vision. The early-onset form of the condition is called Best Vitelliform Macular Dystrophy and usually appears during childhood. The severity of the symptoms of this form of the condition is quite variable. Peripheral and night vision are usually unaffected.
• Blepharitis: A common eyelid inflammation
• Blind spot: Loss of vision in a particular area
• Blindness: Loss of sight in one or both eyes
• Blindness in both eyes: Inability to see from both eyes.
• Blindness in one eye: Inability to see from one eye.
• Blood vessel conditions: Conditions that affect the blood vessels
• Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
• Blue cone monochromatism: A genetic eye disorder where the S cones function normally but the L and M cones don't resulting in poor color vision.
• Blue-ringed octopus poisoning: The blue-ringed octopus is found in shallow Australian ocean water and can deliver venomous, potentially fatal bite. The poison is present in the saliva of the octopus. The venom affects the neuromuscular system.
• Blurred Vision in Both Eyes: Blurring of vision occurring in both eyes.
• Blurred Vision in One Eye: Blurring of vision occurring in one eye only.
• Blurred vision: Blurriness of vision or images.
• Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency: A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor.
• Bothnia retina dystrophy: A genetic eye disease which occurs predominantly in a part of Sweden.
• Brain cancer: Cancer of the brain.
• Brain symptoms: Symptoms affecting the brain
• CAR syndrome: A progressive autoimmune eye disease caused by cancer that occurs outside the eye area. It is a type of paraneoplasic cancer which refers to distant neurological effects caused by a cancer. Eye symptoms usually occur before the cancer is detected.
• CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Calcification of basal ganglia with or without hypocalcemia: Calcification of a part of the brain called the basal ganglia. That calcification may be associated with conditions such as hypothyroidism, cytomegalovirus, and AIDS or may occur for no apparent reason. The severity of the condition may vary greatly from asymptomatic to neurological, psychiatric and movement disorders. The disorder may also progress at variable rates or remain stable depending on the underlying disease process.
• Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
• Canavan disease: Rare genetic degenerative brain disease in infants.
• Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
• Cardiomyopathy - hypogonadism - metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism.
• Cartilaginous - arthritic - ophthalmic - deafness syndrome: A rare syndrome characterized by the association of eye, joint and cartilage disease as well as deafness.
• Cataract: A condition which is characterized by an opacity of the lens of the eye
• Cataract, posterior polar, 1: An inherited form of cataract caused by a defect on chromosome 1pter-p36.1.
• Cataract, posterior polar, 2: An inherited form of cataract caused by a defect in the CRYAB gene on chromosome 11q.
• Cataract, posterior polar, 3: An inherited form of cataract caused by a defect in the CHMP4B gene on chromosome 20q11.
• Cataract, posterior polar, 4: An inherited form of cataract caused by a defect in the PITX3 gene on chromosome 10q25.
• Cataract, posterior polar, 5: An inherited form of cataract caused by a defect on chromosome 14q22-q23. The cataract becomes apparent during early childhood and slowly progresses.
• Cataracts: A condition which is characterized by opacities of the lens of the eyes
• Catastrophic Antiphospholipid Syndrome: A very rare disorder where the blood clotting system becomes dysfunctional and clots too easily due to the abnormal presence of antphospholipid antibodies. It results in blood flow blockages to various body organs. It is possible that the condition has autoimmune origins. The disorder is often triggered by infections, certain drugs (e.g. anticoagulants), minor surgery and hysterectomy.
• Cerebral Aneurysm: Dangerous swelling of a brain blood vessel that may rupture.
• Cerebral Atrophy: Wasting away of the brain.
• Cerebrovascular symptoms: Symptoms related to the brain's arteries
• Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
• Ceroid lipofuscinosis, neuronal 4: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase 1) needed to process it.
• Ceroid lipofuscinosis, neuronal 9: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 9 is distinguished from other types by the origin of the genetic defect.
• Chandler's syndrome: A very rare eye disorder characterized by progressive corneal dystrophy and glaucoma which result in loss of vision.
• Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
• Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
• Chemical adverse reaction - Cesium: Cesium is a chemical used mainly in the photosterilization of foods such as wheat and potatoes and in the manufacture of photoelectric cells. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount (and concentration) of chemical involved and the nature of the exposure.
• Chemical burn: A chemical burn is a burn caused by a chemical. Symptoms vary depending on the chemical, the part of the body affected and the duration of the exposure to the chemical. Rapid first aid following exposure can limit the damage caused by the chemical. Chemical burns can occur when certain chemicals are accidentally swallowed, spilt on the skin, splashed in the eyes or even breathed in the case of chemical gases.
• Chemical burn - eyes: Burns to the eye caused by a chemical. Symptoms vary depending on the type, quantity and strength of the chemical involved as well as the duration of the exposure to the chemical and promptness of treatment measures. Immediate medical attention should be sought if chemical burns to the eyes are suspected.
• Chemical poisoning - Calcium hypochlorite: Calcium hypochlorite is a chemical used mainly in bleaching products, fungicides, algicides, disinfectants and deodorants. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Chloroform: Chloroform is a chemical used mainly as a refrigerant but also as a solvent in various processing and industrial applications. It's use as an anesthetic is relatively uncommon these days. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Cyclohexanone: Cyclohexanone is a chemical used mainly as an industrial solvent, in processes involving oxidative reactions and in the manufacture of certain resins, nylons, insecticides, herbicides, paints, varnish, polishes, degreasers and pharmaceuticals. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Furniture polish: Furniture polish contains chemicals (hydrocarbons) which can cause serious symptoms if ingested. The ingested chemicals can continue to cause damage to the organs and gastrointestinal lining for weeks after the ingestion and severe cases can result in death. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Methanol: Methanol is a chemical used mainly in fuel, paint removers, solvent, antifreeze and in the production process of many other products. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Monosodium Methanarsenate: Monosodium Methanarsenate is a chemical used mainly as a herbicide or pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Morpholine: Morpholine is a chemical used in a variety of applications: rubber industry, corrosion inhibitor, pharmaceuticals, dyes, crop pesticides and as a solvent in various manufacturing processes. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Pepper Spray: Pepper Spray is a chemical used mainly in riot control. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chiari-Frommel syndrome: A hormonal disorder where a woman continues to produce milk even after the child has been weaned.
• Chorioretinitis: Inflammation of the choroids and retina of the eye. It can be caused by various pathogens such as bacteria, viruses, fungus or protozoa. Other noninfectious diseases such as sarcoidosis can cause abnormal deposits in the eye which can also result in inflammation.
• Choroideremia: A rare, inherited, progressive eye disease that causes degeneration of the retina and blindness. The disease usually only affects males.
• Choroiditis: Inflammation of the part of the eye called the choroid (layer behind the retina). Usually only one eye is affected.
• Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
• Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 14q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome partial trisomy 22q11q13: A rare chromosomal disorder where a portion of chromosome 22 at the location q11-q13 is triplicated instead of resulting in various anomalies.
• Chronic blindness: A long lasting loss of vision
• Citrullinemia I, later-onset: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The later-onset form of citrullinemia type I is generally milder than the neonatal form and may sometimes be mild enough to produce no symptoms.
• Classic childhood ALD: Classic severe form of ALD in boys.
• Closed-angle glaucoma: A severe form of glaucoma needing emergency treatment to avoid blindness.
• Cluster headache: Also known as alarm headache, more common in young men, presents with unilateral headache, rhinorrhea and lacrimation
• Cobra poisoning: The Cobra is a poisonous snake which can be found in Africa, Asia and other parts of the world. Some cobras are able to spit venom into the victims eye and cause serious symptoms.
• Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
• Cogan's syndrome: A disorder primarily involving eye inflammation and hearing impairment and dizziness. Complete deafness usually occurs within a couple of years. The disorder is caused by inflammation of the arteries in the ear. Sometimes arteries in other parts of the body may also be affected e.g. skin, kidneys and other organs.
• Cogan-Reese syndrome: A very rare eye disorder where various eye anomalies may impair vision.
• Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
• Colour Vision Disturbance: Loss of colour vision that is congenital or acquired.
• Cone dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone cells in the retina of the eye leading to vision loss.
• Cone rod dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone and rod cells in the retina of the eye leading to vision loss.
• Cone rod dystrophy - amelogenesis imperfecta: A rare genetic disorder characterized by degeneration of parts of the eye that absorb light (cone rod dystrophy) as well as teeth abnormalities.
• Cone-Rod Dystrophy 1: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 1 results from a genetic defect on chromosome 18q21.1-q21.3. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 10: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 10 results from a genetic defect on chromosome 1q22. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 11: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 11 results from a genetic defect on chromosome 19p13.3. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 12: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 12 results from a genetic defect on chromosome 4p15.3. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 13: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 13 results from a genetic defect on chromosome 14q11. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 2: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 2 results from a genetic defect on chromosome 19113.3. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 3: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 3 results from a genetic defect on chromosome 1p2-p13. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 5: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 5 results from a genetic defect on chromosome 17p13. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 6: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 6 results from a genetic defect on chromosome 17p13.1. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 7: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 7 results from a genetic defect on chromosome 6q12-q13. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 8: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 8 results from a genetic defect on chromosome 1q12-q24. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Cone-Rod Dystrophy 9: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 9 results from a genetic defect on chromosome 8p11. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
• Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
• Congenital X-linked retinoschisis: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital disorder of glycosylation type 1G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IG is caused by a defect on chromosome 22q13.33 and involves the gene for a particular enzyme (dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase).
• Conversion Disorder: A psychological condition where physical symptoms arise due to emotional dilemmas.
• Corneal Dystrophies: A group of various disorders affecting the eye's cornea
• Corneal anesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Corneal anesthesia deafness mental retardation: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Corneal dystrophy - perceptive deafness: A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
• Corneal dystrophy and perceptive deafness: A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
• Corneal dystrophy crystalline of Schnyder: A rare disorder characterized by cloudy corneas believed to be due to abnormal lipid deposits in the corneas. A distinctive sign of the condition is the presence of a light-colored ring around the cornea due to abnormal lipid deposit (arcus juvenilis).
• Corneal dystrophy, juvenile epithelial of Meesmann: A rare eye disorder characterized by chilidhood onset of degeneration of the cornea (clear covering of the eye) which impairs vision. Both eyes are affected.
• Corneal hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Corneal opacities: can occur due to extrinsic factors or diseases of the cornea itself
• Corneal ulcer: An ulcer occurring in the cornea.
• Cortical blindness - mental retardation - polydactyly: A very rare syndrome characterized by mental retardation, extra fingers and vision loss.
• Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
• Cotton wool spots: Opacities in the retina of a white or gray colour.
• Craniodiaphyseal dysplasia: A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain.
• Craniometaphyseal dysplasia, autosomal recessive type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type.
• Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
• Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
• Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
• Cree leukoencephalopathy: A rare form of brain demyelination which usually starts between 3 and 9 months of age and death occurs by 21 months.
• Creutzfeldt-Jakob Disease: A very rare degenerative brain disease that can be inherited, transmitted (eg in surgical transplants using infected tissue) or as a result of genetic mutations. The condition is fatal.
• Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
• Cystoid Macular Dystrophy: A dominantly inherited eye disease characterized by macular edema resulting from leaking blood capillaries around the macula of the eye.
• Cytomegalovirus: A easily transmissible viral infection that is common but generally causes no symptoms except in infants and people with weakened immune systems.
• Cytomegalovirus retinitis: Inflammation of the retina of the eye which can cause blindness. The cytomegalovirus is an easily transmissible viral infection that is common but generally causes no symptoms except in infants and people with weakened immune systems.
• DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Daphne poisoning: Daphne is a shrub that contains a toxin called mezerein (skin irritant) in the bark as well as a toxin called daphnin. The bark, sap and berries are the most toxic parts of the plant. The plant is native to Europe and Asia but is also found in other parts of the world such as America. A single berry or leaf can cause symptoms and 2 or 3 can cause death in a child. About 12 berries or leaves can cause quite severe symptoms in adults.
• Deafness - Opticoacoustic nerve atrophy - dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Dermatoosteolysis, Kirghizian type: A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms.
• Desferrioxamine toxicity: Excessive intake of desferrioxamine (a chelating agent used to treat iron storage disorders) can result in vision problems. Cessation of the drug can result in some improvement in vision
• Devic disease: A rare nerve disorder involving demyelination of spinal cord and eye nerves.
• Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Diabetic Eye Disease: Eye disease caused by diabetes
• Diabetic Retinopathy: A complication of diabetes where the microvasculature of the eye is effected resulting in sight loss
• Diabetic retinopathy: A complication of diabetes where the microvasculature of the eye is effected resulting in sight loss
• Diplopia: When two images are visible from a single object
• Double Vision in Both Eyes: Double vision occurring when looking through both eyes, present either at all times or on particular eye movements.
• Double Vision in One Eye: Double vision occurring in one eye only (ie. is seen when the other eye is covered), either at all times or on particular eye movements; is almost always due to a problem with the eye itself and is thus less serious than if both eyes are affected.
• Double vision: Seeing two images, overlapping images, shadow images, or ghost images (diplopia)
• Dry eye: Dryness of one or both eyes
• Dysosteosclerosis: A rare inherited condition characterized by bone development abnormalities (excessive hardening of bone and flattened vertebrae), characteristic facial features. Excessive bone growth at the base of the skull can damage the optic nerves and affect vision.
• Eales Disease: A rare eye disorder characterized by sudden vision loss, problems with eye blood vessuls and reoccurring eye blood vessel hemorrhages as well as oozing of clear thick fluid from inside the eyeball. Usually occurs after a stressful situation, trauma or after waking up.
• Ebola: Dangerous virus mostly found in Africa.
• Ectodermal dysplasia - blindness: A rare syndrome characterized mainly be mental retardation, vision loss, short stature and teeth and hair abnormalities.
• Ehlers-Danlos syndrome type VI: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities.
• Ehlers-Danlos syndrome, 6B: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
• Ehlers-Danlos syndrome, kyphoscoliosis type: A rare genetic connective tissue disorder caused by deficiency of the lysyl hydroxylase enzyme and is characterized by progressive scoliosis and muscle weakness and fragile sclera - previously known as EDS type 6.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Empty sella syndrome - acquired: A disorder where the bony structure surrounding the pituitary gland (sella) appears to be empty except for the cerebrospinal fluid - often results from radiation, surgery or injury which causes the pituitary gland to shrink.
• Encephalocele anterior: Protrusion of a portion of the brain tissue through a skull defect in the anterior portion of the skull. The severity of symptoms depends on the exact location and size of the deformity.
• Encephalocele frontal: Protrusion of a portion of the frontal brain tissue through a skull defect. The severity of symptoms depends on the exact location and size of the deformity.
• Endodermal sinus tumor: A form of malignant germ cell tumor that occurs mainly in young children. They can occur in the testis, ovaries, uterus, abdomen, thorax, tailbone region, vagina, liver, retroperitoneum and pineal ventricle of the brain. Symptoms will vary depending on the exact location of the tumor.
• Enhanced S-Cone Syndrome: A rare inherited form of eye disease.
• Episodic ataxia, type 3: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress and exertion may trigger the episodes. Type 3 is caused by a defect on chromosome 1q42.
• Episodic ataxia, type 7: A rare genetic disorder characterized by episodes of incoordination and unsteadiness which lasted from hours to days. Episodes occurred from monthly to yearly and the frequency tends to lessen with age. Stress and exertion may trigger the episodes. Type 7 is caused by a defect on chromosome 19q13.
• Esthesioneuroblastoma: A rare type of tumor that occurs in the upper nasal cavity. The tumor may obstruct one or both nostrils.
• Eye cancer: A malignancy that affects the eye
• Eye conditions: Any condition that affects the eyes
• Eye floaters: The appearance of floating objects in a persons vision
• Eye melanoma: Melanoma develops in the cells that produce melanin - the pigment that gives the skin its color. the eyes also have melanin-producing cells and can develop melanoma.
• Eye symptoms: Symptoms affecting the eye
• Eyeball spots: Spots affecting the eyeball
• Facioscapulohumeral Muscular Dystrophy - Sensorineural Hearing Loss: A rare condition characterized by hearing impairment and muscle wasting in the facial and shoulder muscles. The rate of progression and severity of the condition is quite variable.
• Familial Granulomatosis, Blau type: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Familial Hypercholesterolemia: A genetic abnormality which causes patients to have abnormally high cholesterol levels (low-density lipoproteins). The condition usually leads to early cardiovascular disease.
• Familial infantile metachromatic leukodystrophy - late infantile: An infantile form of an inherited biochemical disorder involving a deficiency of an enzyme called cerebroside sulfatase. The enzyme deficiency causes cerebroside sulfate to build up within the body and causes damage to the nervous system including the brain. The late infantile form of this disease is much more common than the juvenile or adult form.
• Familial, Systemic, Juvenile Granulomatosis: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Feline spongiform encephalopathy: A prion disease believed to affect felines in a similar fashion to bovine spongiform encephalitis
• Fetal methylmercury syndrome: Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta.
• Fish-eye disease: A familial disorder involving corneal opacities and low HDL cholesterol levels. It occurs as a result of an enzyme (lecithin:cholesterol acyltransferase) deficiency.
• Fleeting blindness: A loss of vision that comes and goes
• Floaters: Floating spots or spidery webs in front of the eyes
• Flynn-Aird syndrome: A rare inherited disorder where neurological degeneration causes symptoms such as dementia, ataxia, eye problems, skin disorders and muscle wasting.
• Franceschetti-Klein syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear.
• Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
• Fuchs atrophia gyrata chorioideae et retinae: A very rare disorder involving progressive degeneration of particular eye structures (choroids, pigment epithelium and retina). The condition causes the peripheral and night vision to progressively deteriorate and ultimately blindness occurs.
• Fuchs' Dystrophy: Cataract-like vision problems from corneal deposits.
• Fundus albipunctatus: A rare genetic eye disease which causes flecks in the retina.
• GM1 gangliosidosis: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• GM2-gangliosidosis, AB variant: A very rare inherited disorder where the brain and spinal cord nerve cells (central nervous system) are progressively destroyed.
• Galactokinase deficiency: A rare condition where an enzyme deficiency (galactokinase) impaires the body's ability to break down galactose consumed in the diet.
• Gangliosidosis generalized GM1, type 1: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• Ghose-Sachdev-Kumar syndrome: A rare eye disorder characterized by small eyes which suffer glaucoma and progressive vision loss.
• Glaucoma: A condition which affects the eye and characterized by an increase in the intraocular pressure
• Glaucoma - iridogoniodysgenesia: A rare genetic eye disorder involving glaucoma and iris anomalies and resulting infn vision loss.
• Glaucoma, congenital: Glaucoma that is present at birth. Glaucoma is an eye condition where the pressure inside the eyeball is increased which can cause progressive vision problems. It may be a result of drainage structure abnormalities within the eye or may occur as a result of other conditions
• Glaucoma, hereditary: An inherited form of glaucoma - includes congenital glaucoma, juvenile glaucoma and adult open-angle glaucoma.
• Glioblastoma: An aggressive primary brain tumour of the glial (supporting) cells.
• Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
• Granulomatous arthritis of childhood: A rare chronic inflammatory condition that starts during early childhood and is characterized by arthritic joints, uveitis and a skin rash that forms on the trunk and limbs.
• Grief or loss: The normal emotional response that occurs to an external loss
• Gronblad-Strandberg-Touraine syndrome: A group of inherited, progressive connective tissue disorders affecting the skin, eyes and cardiovascular system. The condition is characterized by calcium deposits in the connective tissue which affects its ability to function. Some cases remain undiagnosed to the mildness of symptoms.
• Guizar-Vasquez-Sanchez-Manzano syndrome: A rare syndrome characterized by loose joints, chest deformity and unusual facial appearance.
• Gustavson syndrome: A very rare condition characterized by features such as mental retardation, spasticity, seizures and eye and ear problems.
• HERNS syndrome: A rare inherited syndrome characterized by blood vessel disease which causes eye and kidney disease and strokes. Neurological manifestations tend to occur around the 2nd and 3rd decade of life due to the blood vessels in the brain being affected.
• HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
• Hallervorden-Spatz disease: Nerve disorder causing movement problems.
• Halo vision: Any type of vision loss (e.g. blindness, blurred vision, double vision, etc.) is a symptom of great concern. Many of the causes are very serious medical conditions. Certain types of vision changes can be a medical emergency where delay can lead to loss of sight (e.g. for causes such as glaucoma, eye injury, retinal detachment) or loss of life (e.g. for causes such as stroke, TIA, etc.). Even transient or temporary blindness or loss of vision cannot be ignored because it can result from serious conditions such as stroke, TIA, hypertension, epilepsy, or migraine. Seek immediate professional medical attention for any such symptoms of vision changes.
• Hand-Schüller-Christian Syndrome: A group of blood disorder involving excess production of histiocytes (type of immune cell) throughout the body. Accumulation of histiocytes results in non-cancerous growths which can damage organs and other body tissues such as bones. Symptom vary hugely and depend on location and size of tumor growths.
• Head injury: Any injury that occurs to the head
• Heidenhain syndrome: A form of premature dementia caused by degeneration of the brain. It is considered a variant of Creutzfeldt-Jakob disease. Heidenhain syndrome is characterized mainly by eye problems whereas Creutzfeldt-Jakob predominantly involves ataxia.
• Helminth infections: The infection by a parasitic worm
• Hemianopia: Where there is defective vision in half of the visual field of one or both eyes
• Hemoglobin SC: A genetic blood disorder where the patient inherits a gene for hemoglobin S from one parent and hemoglobin C from another. Severity of symptoms is variable.
• Herpes, Neonatal: Neonatal herpes is the infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
• Herpes, Neonatal - Central Nervous System Infection: Central nervous system herpes infection in neonates is a herpes infection of the central nervous system (brain, spinal cord) that develops in infants within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Central nervous system infection will occur in nearly three quarters of infants with a herpes infection.
• Herpes, Neonatal - Mucocutaneous and Ocular Infection: Mucocutaneous herpes infection in neonates is a herpes infection of the mucous membranes within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
• Herpetic keratitis: A corneal inflammation due to a herpes virus - either herpes simplex or herpes zoster virus.
• Hydranencephaly: A very rare condition where fluid replaces a portion of the brain.
• Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
• Hyperopia: Inability to focus on close objects.
• Hyperornithinemia: Excessive levels of ornithine in the blood caused by a deficiency of mitochondrial ornithine aminotransferase.
• Hypertension of pregnancy: Pregnancy hypertension is the development of high blood pressure during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The increased blood pressure can cause complications in pregnancy women e.g. eclampsia and HELLP syndrome. The blood pressure usually returns to normal after delivery.
• Hypophosphatemia: Low blood phosphate levels. Causes include malnourishment, chronic alcoholism excessive carbohydrate consumption, malabsorption, phosphaturia, liver failure, respiratory alkalosis and certain genetic disorders.
• Hypopigmented lesions in children:
• Hysteria: hysteria describes a state of mind, one of unmanageable fear or emotional excesses
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Increased intracranial pressure: Increased pressure inside the skull due to brain swelling or fluid accumulation
• Infant Cytomegalic virus: A serious CMV viral infection in newborns.
• Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
• Intracranial germ cell tumour: A brain tumor that arises from germ (sex) cells. This type of tumor tends to occur in patients under the age of 30, usually in the second decade. Symptoms depend on the size, exact location and rate of growth of the tumor.
• Intraocular melanoma: A type of cancer that develops from pigment producing cells in the eye. The cancer can occur in the iris, choroids or ciliary body. The melanoma may metastasize in some cases. The condition is often asymptomatic.
• Iridocyclitis: Inflammation of the iris and ciliary body (just behind the iris) of the eye.
• Iridogoniodysgenesis type1: A rare genetic eye disorder involving glaucoma and iris anomalies and resulting in vision loss.
• Iris symptoms: Symptoms affecting the iris of the eye
• Jensen syndrome: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Juvenile Retinoschisis: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Juvenile macular degeneration and hypotrichosis: A very rare syndrome characterized mainly by hair loss and eye degeneration.
• Juvenile macular degeneration, hypotrichosis: A very rare syndrome characterized mainly by hair loss and eye degeneration.
• Kallmann Syndrome: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance.
• Kallmann syndrome, type 1, X-linked: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 1 is caused by a genetic defect located at chromosome Xp22.3.
• Keratitis: Cornea inflammation.
• Keratomalacia: An eye condition caused by severe vitamin A deficiency and characterized by dryness and ulceration of the cornea.
• Krabbe leukodystrophy: A rare inherited biochemical disorder involving the deficiency of an enzyme called galactocerebrosidase. It is a leukodystrophy which refers to a group of genetic disorders that affect the growth of the protective coating around the brain nerves.
• Krabbé Disease: Brain myelin disorder with various symptoms.
• Krause syndrome: A syndrome involving the abnormal development of the eye and cerebral portion of the brain. It most often occurs in premature infants or an infant from a multiple birth. It is believed to possibly result from intercurrent infections in the mother, placental abnormalities and hemorrhages that occur during the second trimester of the pregnancy.
• LORD: A rare, dominantly inherited eye disorder involving degeneration of the retina that starts during the fifth or sixth decade.
• Langerhans Cell Histiocytosis: A condition which is characterized by proliferation of Langerhans cells
• Lattice corneal dystrophy type 1: A genetic eye disorder where the cornea of the eye develops abnormal, lattice-shaped lines caused by abnormal deposits of a substance called amyloid. There are three different types of corneal dystrophy: type 1 is a dominantly inherited form with an early onset of vision impairment, type 2 is a less severe eye disorder but involves systemic amyloidosis and type 3 is a recessive form that usually starts after the age of 70.
• Lattice corneal dystrophy type 2: A genetic eye disorder where the cornea of the eye develops abnormal, lattice-shaped lines caused by abnormal deposits of a substance called amyloid. There are three different types of corneal dystrophy: type 1 is a dominantly inherited form with an early onset of vision impairment, type 2 is a less severe eye disorder but is associated with systemic amyloidosis (Meretoja's syndrome) and type 3 is a recessive form that usually starts after the age of 70. Type II generally does not cause vision problems until later in life.
• Lattice corneal dystrophy type 3: shaped lines caused by abnormal deposits of a substance called amyloid. There are three different types of corneal dystrophy: type 1 is a dominantly inherited form with an early onset of vision impairment, type 2 is a less severe eye disorder but is associated with systemic amyloidosis (Meretoja's syndrome) and type 3 is a recessive form that usually starts after the age of 70.
• Laurence-Moon Syndrome: A rare inherited disorder characterized by vision loss, impaired hormone production, mental retardation and spastic paraplegia.
• Leber optic atrophy: An inherited biochemical disorder due to mitochondrial mutation.
• Leber's hereditary optic atrophy: Rare mitochondrial eye disease.
• Lecithin-cholesterol acyltransferase deficiency, LCAT: A rare genetic disorder characterized by an enzyme deficiency (lecithin:cholesterol acyltransferase) which impairs the breakdown of lipoproteins which then builds up and causes damage to tissues. The condition is characterized by corneal disorders, anemia, protein in the urine and ultimately, kidney failure. Partial deficiency of the enzyme (alpha-LCAT) results in a condition called Fish-Eye disease whereas deficiency of the whole enzyme (alpha- and beta-LCAT) causes a condition called Norum disease.
• Leg absence - deformity - cataract: A very rare syndrome characterized mainly by missing bones in one leg, cataracts and progressive spinal curvature.
• Lethal congenital contracture syndrome (LCCS): A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webbing and fractures were usually absent.
• Lethal congenital contracture syndrome 2: A rare inherited lethal disorder characterized by multiple congenital contractures. Type 2 occurs as a result of a genetic defect on chromosome 12q13. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webbing and fractures were usually absent.
• Linear IgA dermatosis: A rare autoimmune skin condition characterized by blistered skin. The condition may occur after using certain drugs, following infection or there may be no apparent cause. It tends to occur in the non-reproductive years and most often affects the limbs, face or genital regions but may occur anywhere. The blisters may occur separately, in clusters or various other formations.
• Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
• Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
• Macular degeneration, polymorphic: An inherited vision disorder which affects both eyes.
• Macular dystrophy, concentric annular: A rare genetic eye disorder characterized by the development of a pigmented ring around a central area that appears normal. It is a relatively benign disorder with vision impairment generally occurring later in life.
• Macular dystrophy, corneal type 1: A rare genetic eye disease that affects the cornea. The condition is progressive.
• Macular dystrophy, retinal, 1, North Carolina type: A rare genetic eye disorder that affects the central part of the retina (macula).
• Macular dystrophy, retinal, 3: A rare genetic eye disorder that affects the central part of the retina (macula).
• Macular hole: A hole in the eye's macula that affects the retina.
• Malignant hypertension: Malignant hypertension is a condition characterized by very high blood pressure and swelling of the optic nerve. This type of hypertension is more common in people with kidney problems such as narrowed kidney blood vessels. The condition is a medical emergency which can cause organ damage if not treated promptly.
• Marsden syndrome: A rare disorder characterized by loss of vision and dystonia. It is believed to be a variant of Leber's atrophy associated with dystonia.
• Megalocornea mental retardation syndrome: A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable
• Melanoma of the choroid: A type of eye cancer that occurs in the pigment-producing cells of the choroid which is a layer beneath the retina consisting mainly of blood vessels.
• Mental retardation - hypocupremia - hypobetalipoproteinemia: A very rare syndrome characterized mainly by mental retardation, low blood copper levels and low betalipoprotein levels in the blood.
• Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Mental retardation, X-linked, Wittwer type: A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mercury poisoning - Folk Remedies: Various folk remedies and medicines contain inorganic mercury and mercury salts. They can lead to mercury poisoning and severe cases can result in death. Children tend to be more sensitive to the effects of mercury poisoning than adults. Even low levels of exposure can cause neurological symptoms in infants and young children. Fetal exposure to mercury can also result in symptoms.
• Mercury poisoning - consumption of contaminated fish: Eating fish contaminated with mercury can lead to mercury poisoning in humans. The severity and range of symptoms experienced can vary greatly depending on the level and duration of exposure. Severe poisoning can lead to death. Pregnant women who eat mercury contaminated fish may give birth to infants who suffer symptoms such as ataxia, tremors, seizures, mental retardation and cerebral palsy. An epidemic was reported where hundreds of Japanese villagers suffered mercury poisoning after eating fish contaminated by a nearby factory. Nearly half of the victims eventually died and children born during that period suffered a variety of neurological problems.
• Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body.
• Methanol poisoning: Excessive ingestion of methanol. Methanol can be found in fuel, solvents and paint products.
• Microcephaly - microphthalmos - blindness: A very rare syndrome characterized mainly by a small head, small eyes and blindness.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Microphthalmia - brain atrophy: A rare syndrome characterized by small eyes and degeneration of brain tissue which causes various abnormalities such as mental retardation. Usually the infant is relatively normal for a number of months after birth followed by rapid loss of previous acquired skills due to degeneration of the white matter of the brain.
• Microphthalmia syndromic, type 10: A rare inherited syndrome characterized mainly by small eyes and wasting of brain tissue.
• Midline craniofacial anomalies and morning glory disc anomaly: A rare syndrome involving the association of midline skull and facial defects and morning glory disc anomaly - a rare birth defect of the optic papilla which is the part of the eye where the optic nerve emerges. The eye defect usually only affects one eye. The features are variable to some degree.
• Migraine: Severe complex headaches that occur periodically
• Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
• Mohr-Tranebjaerg syndrome: A very rare syndrome characterized mainly by nerve degeneration. Deafness usually occurs early in life.
• Monosomy 1p36: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The range and severity of symptoms is variable with some cases being relatively mild.
• Motor and Sensory Neuropathy, Optic Atrophy and Sensorineural Hearing Loss: A very rare inherited condition characterized by vision and hearing impairment and muscle and sensory problems. Hearing impairment is progressive and usually starts in early childhood.
• Motor and Sensory Neuropathy, Pigmentary Retinopathy and Sensorineural Hearing Loss: A condition described in three generations of one family. The condition is characterized by vision and hearing impairment and muscle and sensory problems. Hearing impairment is progressive and usually starts in early childhood.
• Mucolipidosis type 1: An inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a milder form of the condition than sialidosis type II.
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Mucopolysaccharidosis type I Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-iduronidase) needed to break it down.
• Mucormycosis: An infectious disease caused by fungus from the order Mucorales which is normally found in the soil and in decaying plant matter. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses.
• Multifocal choroiditis: A rare eye disorder involving idiopathic inflammation of the choroid of the eye.
• Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
• Multiple endocrine neoplasia type 1: Rare inherited disease causing tumors in multiple glands
• Mycosis fungoides: Mycosis fungoides is a rare form of T-cell lymphoma of the skin. The disease is typically slowly progressive and chronic.
• Mycosis fungoides, familial: A rare form of lymphatic cancer (T-cell lymphoma) that primarily affects the skin and tends to occur with higher than normal frequency within a family. The skin is affected first, then the lymph nodes become inflamed and usually cancerous. The cancer can then spread to organs such as the liver, lungs and bone marrow. Survival depends on how early treatment starts. Patients diagnosed in the early stages can survive more than 12 years whereas once the cancer has spread to other organs, death usually occurs within three years.
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• Nasopharyngeal carcinoma: A malignant cancer that occurs in the nasopharynx area which is the upper part of the throat. Often there are no symptoms until the cancer has metastasized to other parts of the body such as the neck.
• Nelson Syndrome: The rapid growth of a pituitary adenoma (tumor) after the surgical removal of both adrenal glands to treat Cushing's disease. The condition is triggered by the resultant loss of the regulatory function of cortisol.
• Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
• Neuraminidase deficiency: A rare inherited disorder involving an enzyme (neuraminidase and beta-galactosidase) deficiency which results in a build up of glycoproteins (sialyloligosaccharides) in the urine.
• Neuroaxonal dystrophy, infantile: An inherited disorder involving progressive muscular and coordination problems, impaired brain function and speech and vision impairment.
• Neurodegenerative syndrome, X-linked, Hamel type: A very rare neurodegenerative disorder characterized mainly by mental retardation, blindness, convulsions, spasticity and early death. The disorder is X-linked and thus only males suffer the full extent of the symptoms whereas female carriers may be asymptomatic or have only mild symptoms.
• Neurofibromatosis Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
• Neurofibromatosis-1: Genetic disorder often leading to tumors on nerves.
• Neuropathy - ataxia - retinitis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
• Niemann-Pick disease, type C1: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
• Night blindness: Impaired ability to see at night or in the dark
• Night blindness - skeletal anomalies - unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
• Night blindness, congenital stationary: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The disorder is non-progressive.
• Night blindness, congenital stationary, autosomal dominant: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is dominantly inherited.
• Night blindness, congenital stationary, type 1A: A rare X-linked disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is linked to a defect at chromosome Xp11.4 and occurs only in males though females may be carriers.
• Night blindness, congenital stationary, type 1B: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is recessively inherited and is linked to a defect at chromosome 5q35.
• Night blindness, congenital stationary, type 2A: A rare X-linked disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is linked to a defect at chromosome Xp11.23 and occurs only in males though females may be carriers.
• Night blindness, congenital stationary, type 2B: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is recessively inherited and is linked to a defect at chromosome 11q13.1.
• Noble-Bass-Sherman syndrome: A very rare syndrome characterized by various eye anomalies.
• Norrie syndrome: A rare form of blindness that occurs at birth or soon after due to eye defects. The severity and range of symptoms is variable.
• Norum disease: A rare genetic disorder disorder involving abnormal lipid metabolism due to a deficiency of an enzyme called lecithin:cholesterol acyltransferase. The condition causes high levels of cholesterol, triglycerides and phospholipids. The condition is not associated with an increased risk of cardiovascular disease.
• Nutritional deficiency: Any deficiency of the nutrients that are required to sustain human life
• Nyssen-Van Bogaert syndrome: An adult form of an inherited biochemical disorder involving a deficiency of an enzyme called cerebroside sulfatase. The enzyme deficiency causes cerebroside sulfate to build up within the body and causes damage to the nervous system including the brain.
• Nyssen-Van Bogaert-Meyer syndrome: A very rare genetic disorder characterized by progressive degeneration of the central nervous system.
• Obal syndrome: The association of eye problems with severe malnutrition. The condition occurred frequently in soldiers, prisoners of war and people in concentration camps.
• Ocular Herpes: Viral infection of the eye from herpes virus.
• Ocular cicatricial pemphigoid: A rare chronic autoimmune eye condition that can result in blindness if not treated. The conjunctival and mucosal layers of the eye (inside of eyelid and outside of eye) become progressively inflamed and scarred. The condition can be very difficult to treat.
• Oculocerebral syndrome with hypopigmentation: A rare inherited disorder involving lack of pigmentation and eye and brain defects caused by central nervous system abnormalities.
• Oculocutaneous albinism: A group of inherited disorders characterized by varying degrees of lack of pigmentation in the skin, eyes and hair.
• Oculocutaneous albinism type 1: A rare inherited disorder characterized by complete lack of pigmentation in the skin, eyes and hair. Type 1A involves a complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color - type B involves only a partial absence of tyrosinase. It is caused by mutations in the TYR gene.
• Oculocutaneous albinism, minimal pigment type: A rare inherited condition characterized by very little pigmentation in the skin, eye and hair. It is believed to be a variant for of oculocutaneous albinism type 3.
• Oculocutaneous albinism, type 1A: A rare inherited disorder characterized by complete lack of pigmentation in the skin, eyes and hair. Type 1A involves a complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. It is caused by mutations in the TYR gene.
• Oculocutaneous albinism, type 1B: A rare inherited disorder characterized by reduced pigmentation of the skin, eyes and hair. Type 1B involves a partial absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. It is caused by mutations in the TYR gene.
• Oculocutaneous albinism, type 2: A rare inherited disorder characterized by reduced pigmentation in the skin, eyes and hair. Type 2 has normal levels of active tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color - the fairness is caused by a different genetic mutation (OCA2 gene).
• Oculocutaneous albinism, type 3: A rare inherited disorder characterized by slightly reduced pigmentation in the skin, eyes and hair (due to a genetic mutation of the TYRP1 gene). Type 3 is characterized by some pigmentation of the iris despite the complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. Type 3 also has the milder eye problems than the other types.
• Oculocutaneous albinism, type 4: A rare inherited disorder characterized by reduced pigmentation in the skin, eyes and hair. Type 4 involves a normal levels of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. However, albinism is caused by mutation of the MATP gene (membrane associated transporter protein).
• Oguchi disease: A rare genetic eye disorder characterized by night blindness. The night vision impairment is not progressive. The fundus color returns to a normal red when exposed to lack of light for an hour or so (Mitzuo's phenomenon).
• Oligodontia, keratitis, skin ulceration and arthroosteolysis: A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms.
• Olivopontocerebellar atrophy type 3: A disorder where degeneration of certain parts of the brain and spinal cord results in symptoms such as blindness, tremor, speech problems and ataxia.
• Open-angle glaucoma: Vision damage from a slow chronic buildup of fluid pressure in the eye.
• Ophthalmoplegia: Paralysis or weakness of one or more of the muscles that controls the eye.
• Opitc atrophy and cataract, autosomal dominant: A very rare, dominantly inherited disorder characterized mainly by progressive optic nerve dysfunction, cataracts and neurological symptom. The neurological symptoms are usually very mild or don't even occur.
• Optic atrophy: The death of the nerve that supply's the eye
• Optic atrophy 1 and deafness: A form of progressive optic nerve dysfunction which results in impaired vision. Deafness is also present and vision loss is usually mild. Some patients develop neurological symptoms later in life. The disorder is caused by a genetic defect (3q28-q29).
• Optic atrophy 2: An early onset form of progressive optic nerve dysfunction which results in impaired vision. Neurological symptoms are usually present and vision loss progresses very slowly. The disorder is caused by a genetic defect (Xp11.4-p11.21).
• Optic atrophy 5: An early onset form of progressive optic nerve dysfunction which results in impaired vision. Vision loss was usually moderate. The eye disorder is caused by a genetic defect (22q12.1-q13.1).
• Optic atrophy 6: An early onset form of progressive optic nerve dysfunction which results in impaired vision. Vision loss progresses very slowly. The eye disorder is caused by a genetic defect (8q21-q22).
• Optic atrophy and cataract, autosomal dominant: A very rare, dominantly inherited disorder characterized mainly by progressive optic nerve dysfunction, cataracts and neurological symptom. The neurological symptoms are usually very mild or don't even occur.
• Optic atrophy, autosomal dominant: A very rare, dominantly inherited form of optic atrophy characterized mainly by progressive optic nerve dysfunction, impaired color vision and pale optic discs.
• Optic neuritis: A condition which is characterized by inflammation of the optic nerve
• Optic neuropathy, anterior ischemic: Impaired vision due to optic nerve damage caused by problems with the blood supply to the nerve. The non-arteritic form is caused by and interrupted blood supply to the optic disk. Usually one eye is affected first and maybe eventually be followed by the other. Often only part of the visual field is affected.
• Optic pathway glioma: A type of tumor that arises in the optic nerve which sends messages from the eye to the brain. These tumors tend to occur mainly in children under the age of 10. The tumor may affect the hormone center of the brain and hence can affect such things as growth and weight.
• Opticoacoustic nerve atrophy dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Orbit Tumour: Tumour growing in the eye socket (space behind or surrounding the eyeball); may be benign or malignant or due to secondary growth from another malignancy
• Orbital lymphangioma: A tumor that develops from lymph vessels around the eye.
• Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• Osteopetrosis, autosomal recessive 2: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. This form is relatively mild with survival possible for a couple of decades in some cases.
• Osteopetrosis, autosomal recessive 4: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
• Osteoporosis - macrocephaly - blindness - joint hyperlaxity: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Osteoporosis - macrocephaly - mental retardation - blindness: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Pantothenate kinase-associated neurodegeneration: A rare, inherited, progressive neurological movement disorder where accumulation of iron in the brain causes degeneration of the nervous system.
• Panuveitis: Inflammation of the whole uvea. The uvea is the middle coat of the eye.
• Papilloedema: is the optic disc swelling due to raised intracranial pressure
• Paraneoplastic cerebellar degeneration: Disorders of the cerebellum associated with tumors. The cerebellum is the part of the brain that controls coordination. It is believed that the body's immune system's attempt to destroy the tumor results in damage to the cerebellum. The main tumors associated with this condition include lung and breast cancer, Hodgkin's lymphoma and reproductive organ tumors.
• Patterned dystrophy of retinal pigment epithelium: A very rare disorder involving destruction of retinal pigments in a butterfly shape.
• Patterned dystrophy of the retinal pigment epithelium: A very rare disorder involving destruction of retinal pigments in a butterfly shape.
• Pediatric granulomatous arthritis: A rare chronic inflammatory condition that starts during early childhood and is characterized by arthritic joints, uveitis and a skin rash that forms on the trunk and limbs.
• Pellagra-like syndrome: A rare disorder where the body is unable to metabolise tryptophan which causes a distinctive skin rash and neurological symptoms.
• Periorbital cellulitis: Bacterial infection of the superficial tissues surrounding the eyes, often following a conjunctivitis or middle ear infection
• Peripheral vision loss: Reduced or lost peripheral vision
• Phacolytic Glaucoma: Phacolytic glaucoma (PG) is the sudden onset of open-angle glaucoma caused by a leaking mature or hypermature (rarely immature) cataract. It is a form of lens-induced open-angle glaucoma.
• Phenytoin toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Phosgene oxime - eye exposure: Phosgen oxime has no useful purpose but may be manufactured for use as a chemical weapon. Eye exposure to the chemicals can cause potentially serious complications such as blindness. The severity of symptoms will vary depending on the extent and duration of the exposure.
• Phosgene oxime exposure: Phosgene oxime has no useful purpose but may be manufactured for use as a chemical weapon. The chemical is poisonous and exposure can occur through ingestion, inhalation and absorption through the skin. Symptoms will vary depending on the method of exposure, degree of exposure and duration of exposure. The chemical can penetrate clothing.
• Pigmentary retinopathy: An inherited eye disorder involving degeneration of the retina.
• Pituitary cancer, childhood: Cancer (malignant) of the pituitary gland in children. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Pituitary tumors, adult: A benign or cancer tumor that develops in the tissue of the pituitary gland in adults. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Plant poisoning - Euphorbiaceae: Euphorbiaceae is a family of flowering plants called spurges. They contain various chemicals (alkaloids, glycosides and diterpene ester) which can cause symptoms if ingested.
• Plum syndrome: A very rare syndrome characterized mainly by eye, brain and bone abnormalities.
• Polychondritis: A serious, progressive, episodic condition characterized by inflammation and degeneration of cartilage in the body. The duration and severity of the episodes can vary.
• Posterior column ataxia with retinitis pigmentosa: A very rare syndrome characterized mainly by progressive ataxia and eye degeneration resulting in blindness by the third decade as well as muscle problems.
• Posterior vitreous detachment: Detachment of the eye's internal jelly vitreous from the rear of the eye
• Pregnancy toxemia /hypertension: Preeclampsia is the development of high blood pressure, excess protein in the urine and swelling during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The blood pressure usually returns to normal after delivery.
• Presbyopia: Age-related far-sightedness often requiring glasses
• Primary glaucoma, congenital: Glaucoma that is present at birth. Glaucoma is an eye condition where the pressure inside the eyeball is increased which can cause progressive vision problems. It may be a result of drainage structure abnormalities within the eye.
• Primary open angle glaucoma: POAG is characterized by increase in the intraocular pressure due to trabecular blockage.
• Progressive Multifocal Leukoencephalopathy: Progressive degenerative condition of the brain.
• Progressive Supranuclear Palsy: A disorder characterized by reduced motor control, dementia and eye movement problems.
• Protanopia: The inability to see all four primary colours rather limited to seeing blu and yellow
• Proximal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
• Pseudotumor Cerebri: A condition involving increased intracranial pressure which can produce symptoms similar to a brain tumor.
• Pseudoxanthoma elasticum: A group of inherited, progressive connective tissue disorders affecting the skin, eyes and cardiovascular system. The condition is characterized by calcium deposits in the connective tissue which affects its ability to function. Some cases remain undiagnosed to the mildness of symptoms.
• Pseudoxanthoma elasticum, dominant form: A very rare dominantly inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
• Pseudoxanthoma elasticum, recessive form: A very rare recessively inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
• Pterygium: Pink growth on the eye's cornea
• Pterygium of the conjunctiva: A very rare disorder where an abnormal membrane of tissue grows from the conjunctiva of the eye. The membrane can cover a part of the eye and impair vision.
• Pyle disease: A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing.
• Pyruvate decarboxylase deficiency: A rare genetic disorder involving an enzyme (pyruvate decarboxylase) deficiency which results in symptoms such as failure to thrive, psychomotor retardation, small head, eye problems, increased blood ammonia levels and lactic acidosis which can result in infant death in severe cases.
• Ramos-Arroyo Syndrome: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Ramos-ArroyoClark syndrome: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Red green colour blindness: An inability to distinguish the colours red and green
• Reese-Ellsworth syndrome: A rare disorder characterized by iridogoniodysgenesis (underdeveloped iris and fluid channels in the eye) as well as mental retardation, cleft palate, syndactyly and muscle disease.
• Refractive Eye Disorders: Any disorder that affects the ability of the eye to focus on an object
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Refsum disease with increased pipecolic acidemia: A rare disorder involving all the clinical features of Refsum disease as well as high blood levels of L-pipecolic acid. Refsum disease is a metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Renal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years.
• Retina Conditions: Any condition that affects the retina of the eye
• Retinal Vein Occlusion: A condition which is characterized by the occlusion of the retinal vein
• Retinal cone dystrophy 1: An inherited eye disease characterized by the deterioration of the retinal cones. Loss of visual acuity tends to start in the third decade of life. Type 1 is linked to a defect on chromosome 6q25-q26.
• Retinal cone dystrophy 2: An inherited eye disease characterized by the deterioration of the retinal cones. Vision loss tends to start during the first decade of life and slowly progresses into adulthood. Type 2 is linked to a defect on chromosome 17p.
• Retinal cone dystrophy 3A: An inherited eye disease characterized by the deterioration of the retinal cones. Type 3A is linked to a defect on chromosome 12p13.
• Retinal cone dystrophy 3B: An inherited eye disease characterized by the deterioration of the retinal cones. Type 3B is linked to a defect on the PKCNV2 gene.
• Retinal cone dystrophy 4: An inherited eye disease characterized by the deterioration of the retinal cones. Loss of visual acuity progresses slowly. Type 4 is linked to a defect on chromosome 12p13.3.
• Retinal degeneration: Degeneration which occurs to the retina of the eye
• Retinal detachment: Detachment of the retina of the eye
• Retinal dysplasia, X-linked: Abnormal development of the retina that affects males only and affects vision. The severity of the condition is variable and may involve retinal anomalies such as folds in the retina or blood vessel abnormalities within the eye.
• Retinal migraine: Retinal Migraine is Migraine where there are repeated attacks of visual disturbances preceding the headache phase of the Migraine attacks.
• Retinal tear: A condition that is characterised by a tear in the retina of the eye
• Retinitis pigmentosa: A hereditary group of diseases that cause progressive loss of retinal function
• Retinitis pigmentosa 27: A rare genetic eye disorder characterized by progressive damage to the retina of the eye which causes progressive vision impairment. Type 27 is caused by a defect on chromosome 14q11.1-q11.2.
• Retinitis pigmentosa 29: A rare genetic eye disorder characterized by progressive damage to the retina of the eye which causes progressive vision impairment. Type 29 is caused by a defect on chromosome 4q32-q34.
• Retinitis pigmentosa, deafness, mental retardation, hypogonadism: A rare genetic disorder characterized by mental retardation, reduced hormone production by the testes or ovaries, deafness and vision problems.
• Retinitis pigmentosa-deafness syndrome: A condition characterized by the association of an eye disease and deafness.
• Retinitis punctata albescens: A rare genetic eye disease which causes flecks in the retina.
• Retinoblastoma: A rare malignant retinal tumor that occurs in infants.
• Retinopathy: Any disease that occurs to the retina that does not involve inflammation
• Retinopathy of prematurity: Eye problems that occur in premature underweight infants who are exposed to a high oxygen environment.
• Retinopathy pigmentary mental retardation: A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
• Retinopathy, arteriosclerotic: Changes in the retina that occurs because of arteriosclerosis which involves hardening of the arteries.
• Retinoschisis: A rare inherited or acquired condition where the retina separates into two layers resulting in progressive vision loss.
• Retinoschisis with early hemeralopia: A rare inherited form of eye disease.
• Retinoschisis, Juvenile, X-Linked: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Retinoschisis, X-linked: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Retinoschisis, autosomal dominant: A dominantly inherited disease of the retina.
• Retinoschisis, juvenile: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
• Rhabditida Infections: Infection with a parasitic worm from the order rhabditida. The symptoms are determined by the species involved.
• Rhabdomyosarcoma, embryonal: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor.
• Rhabdomyosarcoma, embryonal 1: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rhabdomyosarcoma, embryonal 2: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rhino-orbito-cerebral phycomycosis: Fungal infection of the brain, nose and brain. Infection usually occurs through inhalation of fungal spores and the condition is result in rapid death. It tends to occur in severely ill patients such as those suffering from severe diabetes, carcinomatosis, ketoacidosis or bacterial infections.
• Rhinocerebral mucormycosis: A rare opportunistic infection that tends to occur mainly in the brain and sinuses. The condition is usually fatal and generally only affects immunocompromised people such as patients with leukemia, lymphoma or those that have had organ transplants or chemotherapy. The infectious agent is saprophytic fungi.
• Rhinocerebral zygomycosis: An infectious disease caused by fungus from the orders Mucorales and Entomophthorales which are normally found in the soil and in decaying plant matter. The infection differs from mucormycosis which only involves the order Mucorales. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses. Rhinocerebral zygomycosis involves infection of the paranasal sinuses and the central nervous system.
• Rieger Syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities.
• Rieger syndrome 2: A rare disorder where abnormal development of the front portion of the eye causes glaucoma and impaired vision. Other abnormalities are also present.
• Rift Valley Fever: Mosquito-borne viral infection affecting animals and humans
• Roberts syndrome: A very rare genetic disorder involving a range of physical abnormalities.
• Rollet syndrome: A rare disorder involving damage to a part of the eye orbit resulting in eye problems and skin sensation abnormalities involving the forehead, temples and top of the head.
• Roy-Maroteaux-Kremp syndrome: A very rare syndrome characterized mainly by skin lesions abnormal bone development and spastic paraplegia.
• Rufous oculocutaneous albinism: A rare inherited disorder characterized by abnormal pigmentation balance in the skin, eyes and hair (due to a genetic mutation of the MC1R gene). Tyrosinase, which is needed for the production of melanin which gives the skin, hair and eyes their color, is present but but a pigmentation imbalance causes a distinctive reddish coloration to the skin and hair.
• Sabouraud syndrome: A rare inherited disorder involving thin, dry, brittle hair which has a tendency to break off easily.
• Sandhoff Disease: An inherited biochemical disorder involving a deficiency of the enzyme called hexosaminidase A&B which results in the harmful accumulation of chemicals in the central nervous system and other body tissues.
• Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
• Schilder's Disease: Rare nerve myelin condition.
• Schindler disease: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. The most severe form usually results in death within a few years of birth whereas the mild form doesn't cause symptoms until after the age of 30. The type and severity of symptoms varies depending on which form of the disease is involved.
• Schindler disease, type 1: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. Type 1 is an infantile form and is the most severe form. It usually results in death within a few years of birth.
• Scleritis: This is where there is inflammation of the sclera
• Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
• Scotoma: A condition which is characterized by an area of depressed vision in the visual field
• Secernentea Infections: Infection with a type of parasitic nematode (worm). The symptoms are highly variable depending on where the worm migrates to through out the body and which particular species is involved. Some examples of nematodes are Wuchereria, Spirurina, Mansonella, Drucunculus, Loa and Ascaris.
• Senile Retinoschisis: Retinoschisis is medical term for splitting of the retina. In senile retinoschisis, the problem occurs with old age and rarely causes severe vision impairment. It can occur in males or females.
• Senior-Loken Syndrome: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease.
• Senior-Loken syndrome 1: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 1 is caused by a chromosomal defect on chromosome 2q13. End stage kidney disease usually occurs early in the second decade.
• Senior-Loken syndrome 3: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 3 is caused by a chromosomal defect on chromosome 3q22. This form generally has an early onset.
• Senior-Loken syndrome 4: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.
• Senior-Loken syndrome 5: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 5 is caused by a chromosomal defect on chromosome 3q21.1. This form generally has a later onset.
• Senior-Loken syndrome 6: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 6 is caused by a chromosomal defect on chromosome 12q21.3. End stage kidney disease usually occurs early in the second decade and vision impairment occurs by 3 years of age.
• Senter syndrome: A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
• Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
• Shaken Baby Syndrome: A condition caused by violent shaking of a baby.
• Shingles: Infectious viral infection occuring years after chickenpox infection.
• Sialidosis type 1: A rare inherited condition where deficiency of an enzyme called neuraminidase results in epilepsy, ataxia and vision problems as well as characteristic cherry red spots in the macula of the eye. Symptoms may be exacerbated by factors such as smoking and menstrual cycles.
• Sialidosis type 1 and 3: A rare inherited biochemical disorder involving the deficiency of an enzyme (alpha-N-acetylneuraminidase) which results in the harmful accumulation of certain chemicals (sialyloligosaccharides and sialylglycopeptides) in various body tissues.
• Sialidosis type 2: A very rare inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a severe form of Sialidosis type I.
• Sialidosis type I: An inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a milder form of the condition than sialidosis type II.
• Sialidosis type II: A very rare inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a severe form of Sialidosis type I.
• Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Simell-Takki syndrome: A rare genetic disorder involving an enzyme deficiency that results in accumulation of ornithine which is toxic to the eye.
• Singh-Chhaparwal-Dhanda syndrome: A very rare syndrome characterized mainly by short stature, mental retardation, eye defects and a missing kneecap.
• Small syndrome: A rare genetic disease characterized by deafness, muscle weakness and wasting, mental retardation and eye disorders.
• Smith-Martin-Dodd syndrome: A very rare syndrome characterized mainly by small eyes, a hernia and a heart defect (tetralogy of Fallot).
• Spastic paraparesis deafness: A syndrome that is characterized with spastic paraparesis and deafness.
• Spastic tetraplegic - cerebral palsy: A rare disorder characterized by the association of spasticity (muscle tightness of the arms and legs as well as cerebral palsy.
• Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
• Spinocerebellar ataxia 3: A rare genetic disorder (chromosome 14q32.1defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types. The duration of the disease is 1-20 years.
• Spinocerebellar ataxia, Machado-Joseph type II: A rare genetic disorder (chromosome 14q32.1defect) characterized by intermediate onset of symptoms. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, autosomal recessive 3: A rare neurological disorder caused by a genetic defect (chromosome 6p21, recessive) and resulting in ataxia and loss of vision and hearing.
• Spondylo-ocular syndrome: A rare, recessively inherited syndrome characterized mainly by eye and spinal abnormalities.
• Steroid induced glaucoma.: Steroid-induced glaucoma is a form of open-angle glaucoma that has potential to cause the elevation of intraocular pressure (IOP) which may develop with inhaled, oral, topical intravenous, periocular, or intravitreal steroid administration.
• Stevens Johnson syndrome: A rare but serious condition involving inflammation and blistering of the skin and mucous membranes. It is believed to be an allergic reaction that can occur in response to some drugs or infectious diseases.
• Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
• Stickler Syndrome, type I: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2
• Stickler Syndrome, type II: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21
• Striped Blister Beetle poisoning: The striped blister beetle is native to many parts of America and Canada. Animals that accidentally eat the beetles can become quite ill and they can also cause symptoms in humans if accidentally ingested. The beetles contain toxic substances called cantharidin and pederin which can cause symptoms through skin or eye exposure as well as through ingestion.
• Stroke: Brain-related symptoms of bleeding or blockage.
• Stroke symptoms: Brain-related symptoms of bleeding or blockage.
• Subacute Sclerosing Panencephalitis: A progressive neurological disorder involving inflammation of the brain caused by a complication of the measles virus. It can occur up to 10 years after the initial measles virus and may be due to a defective immune response to the virus or a reactivation of the virus.
• Subacute myelo-optico neuropathy syndrome: A toxicity reaction to a drug called clioquinol which is an antifungal drug. The reaction primarily involves damage to certain nerves which can result in weakness, paralysis and blindness.
• Subacute sclerosing leukoencephalitis: A rare chronic form of brain inflammation that is associated with the measles virus. The patient usually appears to have a full recovery after the measles infection with symptoms developing usually between two and eight years after the infection. The condition tends to affect children and young adults mainly. The disease process involves the degeneration of the protective nerve sheaths (myelin) in the brain. Measles immunization is the most effective way of preventing the development of this complication of measles.
• Superior orbital fissure syndrome: A neurological condition that can result from a fracture of the orbital fissure which is a cleft that lies behind the nose. The disorder that can also result from facial fractures, cavernous sinus infections or retrobulbar tumors or infections. Damage to the nerves that pass through the orbital fissure causes the symptoms.
• Syncope: Loss or interruption of consciousness.
• Syndactyly, Cenani Lenz type: A rare birth defect syndrome characterized by various hand bone abnormalities.
• Synovitis granulomatous with uveitis and cranial neuropathies: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
• Takayasu arteritis: A chronic inflammation of the large blood vessels leading from the aorta which results in lack of pulse in the arms and the carotid arteries, transient paraplegia and blindness and atrophy of the facial muscles. Also called Takayasu's disease, pulseless disease, brachiocephgalic arteritis or aortic arch syndrome.
• Tay Sachs: Rare genetic disease leading to fatty deposits in the brain.
• Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
• Tay-Sachs disease - juvenile onset: A rare inherited biochemical disorder involving the deficiency of an enzyme called Hexosaminidase A. There are two forms of the disease - juvenile and adult onset.
• Temporal arteritis: Inflamed head artery causing headache.
• Thalidomide - Teratogenic Agent: There is evidence to indicate that exposure to Thalidomide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Thallium poisoning: The poisoning of a person with the element thallium
• Thanos syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus).
• Thanos-Stewart-Zonana Syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
• Thyroid eye disease: Thyroid eye disease is an autoimmune eye condition that, while separate from thyroid disease, is often seen in conjunction with Graves' Disease.
• Tolosa-Hunt Syndrome: A rare disorder characterized by severe headaches and paralysis and weakness of eye muscles.
• Toxoplasmosis - Teratogenic Agent: There is strong evidence to indicate that the development of Toxoplasmosis during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Trachoma: Chronic bacterial eye condition in the developing world
• Transient ischemic attack: temporary disturbance of blood supply to a restricted area of the brain, resulting in brief neurologic dysfunction that persists, by definition, for less than 24 hours.
• Transthyretin amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the transthyretin form, the amyloid protein consists of transthretin. The condition is characterized by slo-progressing peripheral sensorimotor and autonomic neuropathy, kidney disease and heart disease. Abnormal amyloid deposits may also occur in the eyes and central nervous system. There are a number of subtypes of the disorder: familial oculoleptomeningeal amyloidosis, familial amyloid polyneuropathy and familial amyloid cardiomypathy as well as others. Neuropathic symptoms tend to start in the legs. Symptoms may vary depending on which parts of the body are affected.
• Treacher-Collins Syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting palpebral fissures, defect of lower eye lid and malformation of external ear.
• Tumor: Abnormal tissue growth which may be malignant or benign.
• Tunnel vision: Central vision with loss of peripheral vision
• Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
• Usher Syndrome Type 1: A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood.
• Usher Syndrome Type 2: A rare inherited disorder characterized by mild to moderate sensorineural deafness at birth and progressive vision loss which starts in late adolescence or early adulthood and blindness occurs after about 35 years of age. Symptoms are generally not as severe as in type I with deafness occurring from birth and vision loss starts during adolescence or later .
• Usher syndrome, type 1B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 1C: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 11p15.1.
• Usher syndrome, type 1D: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
• Usher syndrome, type 1E: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 21q21.
• Usher syndrome, type 1F: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
• Usher syndrome, type 1G: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 17q24-q25.
• Usher syndrome, type 2A: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 2B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 2C: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type IIA: A rare inherited disorder characterized by mild to moderate sensorineural deafness at birth and progressive vision loss which starts in late adolescence or early adulthood and blindness occurs after about 35 years of age. Symptoms are generally not as severe as in type I with deafness occurring from birth and vision loss starts during adolescence or later. The defect occurs on chromosome 1q41.
• Usher syndrome, type IIB: A rare inherited disorder characterized by mild to moderate sensorineural deafness at birth and progressive vision loss which starts in late adolescence or early adulthood and blindness occurs after about 35 years of age. Symptoms are generally not as severe as in type I with deafness occurring from birth and vision loss starts during adolescence or later. The defect occurs on chromosome 3p24.2-p23.
• Usher syndrome, type IIC: A rare inherited disorder characterized by mild to moderate sensorineural deafness at birth and progressive vision loss which starts in late adolescence or early adulthood and blindness occurs after about 35 years of age. Symptoms are generally not as severe as in type I with deafness occurring from birth and vision loss starts during adolescence or later. The defect occurs on chromosome 5q14.
• Uveal diseases: Any condition which affects the uvea of the eye
• Uveal melanoma: A condition which is characterised by malignancy of the uvea
• Uveitis: A condition which is the result of inflammation of the uvea
• Vasculitis: A condition which is characterized by inflammation to blood vessels
• Vasterbotten dystrophy: A genetic eye disease which occurs predominantly in a part of Sweden.
• Verloes Van Maldergem Marneffe syndrome: A condition that is characterised by dwarfing skeletal dysplasia.
• Vertebral Artery Dissection: A tear that develops in the verebral artery and tends to result in a stroke. It is the most common cause of stroke in young people. Vertebral artery dissections can be caused by trauma to the neck, manipulation of the spine (chiropractics), high blood pressure or even blowing the nose in some cases.
• Vision changes: Any change in vision or sight.
• Vision distortion: Distortions or changes to vision
• Vision loss: Impaired vision or loss of vision
• Vision loss in children:
• Visual blurring: The occurrence of blurring of ones vision
• Visual field defects: loss of a part of the usual field of vision. The lesion can be anywhere along the optic pathway, retina to ophthalmic cortex
• Visual floaters: Spots or dots that move across the field of vision.
• Visual impairment: Any condition which impairs ones vision
• Visual problems: Any problems which might occur that affect ones vision
• Vitamin A deficiency: Dietary deficiency of vitamin A
• Vitreous detachment: Detachment of the eye's internal jelly vitreous from the rear or side of the eye
• Von Hippel-Lindau Disease: Genetic disease causing multiple benign tumors
• WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
• Wagener syndrome: A disorder involving the association of hypertension, arteriosclerosis, thickened heart muscle and severe neuroretinitis.
• Wagner syndrome 1: A rare genetic eye disorder characterized by the early onset of cataracts, retinal degeneration and retinal detachment
• Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
• Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.
• Wells Jankovic syndrome: A syndrome that is characterised with spastic paraparesis and deafness
• Wildervanck syndrome 2: A syndrome characterized by mental retardation from birth, short stature, eye problems and various other abnormalities.
• Wilms tumor - aniridia - genitourinary anomalies - mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
• Winchester Syndrome: A very rare condition involving destruction of bone in the ankle, wrists and elbows as well as eye, teeth and joint abnormalities.
• Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
• Wolfram Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Woods Black Norbury syndrome: A condition that is characterised by immune deficiency in the newborn ultimately resulting in death
• Wrinkly skin syndrome: A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.
• Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
• Xanthomatosis cerebrotendinous: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.
• Zygomycosis: An infectious disease caused by fungus from the orders Mucorales and Entomophthorales which are normally found in the soil and in decaying plant matter. The infection differs from mucormycosis which only involves the order Mucorales. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses.

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