As with all medical conditions, there may be many causal factors. Further relevant information on causes of Usher Syndrome may be found in:
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Retinitis pigmentosa can be classified according to its inheritance pattern: autosomal dominant, autosomal recessive, and X-linked. Typically, in all forms of retinitis pigmentosa, the retinal rods slowly deteriorate. Clumps of pigment resembling bone corpuscles aggregate in the peripheral region of the retina and later involve the macular and peripheral areas. Visual symptoms usually appear between ages 10 and 30, though some children may become blind within the first year of life.
Retinitis pigmentosa affects 1 of every 4,000 people in the United States.
Source: Professional Guide to Diseases (Eighth Edition), 2005
This disorder may produce bilateral lid lag and other ocular effects, including exophthalmos, infrequent blinking, eye dryness and discomfort, conjunctival injection, and a characteristic stare. (Thyrotoxicosis is the most common cause of unilateral and bilateral exophthalmos in adults and children.) Restricted eye movement may produce diplopia. Other effects include an enlarged thyroid, nervousness, heat intolerance, weight loss despite increased appetite, diaphoresis, diarrhea, tremors, palpitations, widened pulse pressure, and silken-smooth skin texture.
Because thyrotoxicosis affects virtually every body system, it can produce many other findings. For example, central nervous system effects include clumsiness, shaky handwriting, and emotional lability. Integumentary effects include smooth, warm, flushed, and thickened skin with itchy patches; fine, soft hair with premature graying and increased loss; friable nails; and onycholysis.
Cardiopulmonary involvement causes constant dyspnea; tachycardia; full, bounding pulse; widened pulse pressure; visible point of maximal impulse; and, occasionally, systolic murmur.
Besides nausea and vomiting, GI findings include anorexia, diarrhea, and hepatomegaly. Musculoskeletal findings include weakness, fatigue, and atrophy, along with paralysis and, occasionally, acropachy. Women may report oligomenorrhea or amenorrhea; men may develop gynecomastia; both sexes may experience decreased libido.
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
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