Articles » NINDS Septo-Optic Dysplasia Information Page: NINDS

NINDS Septo-Optic Dysplasia Information Page: NINDS

Article title: NINDS Septo-Optic Dysplasia Information Page: NINDS

Main condition: Septo-Optic Dysplasia

Conditions: Septo-Optic Dysplasia

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What is Septo-optic Dysplasia?
Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.

Is there any treatment?
Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.

What is the prognosis?
The prognosis for individuals with SOD varies according to the presence and severity of symptoms.

What research is being done?
The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD.

Selected references

Lau, K, et. al.
Septo-Optic Dysplasia. American Journal of Diseases of Children, 147; 71-72 (January 1993).

Thoene, J. (ed).
Physicians' Guide to Rare Diseases. Dowden Publishing Co., Inc., Montvale, NJ, p. 123 (1992).

Williams, J, et. al.
Septo-Optic Dysplasia: The Clinical Insignificance of an Absent Septum Pellucidum. Developmental Medicine and Child Neurology, 35; 490-501 (1993).

 Organizations

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org/
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

National Eye Institute (NEI)
National Institutes of Health
Bldg. 31, Rm. 6A32
Bethesda, MD 20892-2510
2020@b31.nei.nih.gov
http://www.nei.nih.gov/
Tel: 301-496-5248 Professionals 800-869-2020

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov/
Tel: 301-496-5133 800-370-2943

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Bldg. 31, Rm. 9A04
Bethesda, MD 20892-2560
http://www.niddk.nih.gov/
Tel: 301-496-3583

FOCUS Families
2341 Emerald Street
San Diego, CA 92109
support@focusfamilies.org
http://www.focusfamilies.org/
Tel: 866-FOCUS 50 (866-362-8750)
Fax: 866-362-8750

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



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