Septo-optic dysplasia

Septo-optic dysplasia, previously known as de Morsier syndrome, is a rare disorder of development that involves the septum pellucidum—the thin membrane located between the two cerebral hemispheres (halves of the brain)—as well as the eyes and the pituitary gland.

Septo-optic dysplasia causes optic nerve abnormalities and affects the optic disc located at the back of the eye, where the optic nerve meets the retina. The pituitary gland produces hormones that regulate other bodily functions. In people living with septo-optic dysplasia, the septum pellucidum may be missing.

Symptoms include:

• Loss of eyesight in one or both eyes
• Pupils that get bigger in the light
• An uncontrollably fast side-to-side movement of the eyes
• Eyes that turn towards or away from the nose
• Poor muscle tone
• Problems with hormones (chemicals in the body)
• Development delays from eyesight or neurologic problems

Symptoms are different for each person. Treatment focuses on the symptoms. Some people may need physical, vision, and occupational therapy.

How can I or my loved one improve care for people with septo-optic dysplasia?

Consider participating in a clinical trial so clinicians and scientists can learn more about septo-optic dysplasia and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with septo-optic dysplasia at Clinicaltrials.gov.

Where can I find more information about septo-optic dysplasia?

Information may be available from the following resources:

Genetic and Rare Diseases (GARD) Information Center

MedlinePlus

Content source: https://www.ninds.nih.gov/health-information/disorders/septo-optic-dysplasia Accessed July 17, 2023.

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