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NINDS Septo-Optic Dysplasia Information Page

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Synonym(s):   De Morsier's Syndrome

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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.

NIH Patient Recruitment for Septo-Optic Dysplasia Clinical Trials

Organizations

March of Dimes 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 TTY: 866-569-1162
FOCUS Families
228 E. Palomino Court
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



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Last updated August 01, 2008