Septo-Optic Dysplasia
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What is Septo-Optic Dysplasia?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat 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.
Select this link
to view a list of studies currently seeking patients.
Organizations
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains,
NY
10605
askus@marchofdimes.com
http://www.marchofdimes.com
Tel: 914-428-7100
888-MODIMES (663-4637)
Fax: 914-428-8203
|
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury,
CT
06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100
Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
|
National Eye Institute (NEI)
National Institutes of Health, DHHS
31 Center Drive, Rm. 6A32 MSC 2510
Bethesda,
MD
20892-2510
2020@nei.nih.gov
http://www.nei.nih.gov
Tel: 301-496-5248
|
National Institute of Diabetes and Digestive
and Kidney Diseases (NIDDK)
National Institutes of Health, DHHS
31 Center Drive, Rm. 9A06 MSC 2560
Bethesda,
MD
20892-2560
http://www.niddk.nih.gov
Tel: 301-496-3583
|
FOCUS Families
228 E. Palomino Ct.
Gilbert,
AZ
85296
support_families@focusfamilies.org
http://www.focusfamilies.org
Tel: 866-FOCUS 50 (866-362-8750)
Fax: 866-362-8750
|
Magic Foundation [Growth Disorders]
6645 West North Avenue
Oak Park,
IL
60302
http://www.magicfoundation.org
Tel: 708-383-0808
800-3-MAGIC3 (362-4423)
Fax: 708-383-0899
|
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by
or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice
on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Last updated February 14, 2007
