Septo-optic dysplasia is a disorder that affects early brain development. This condition is typically defined as a combination of at least two of the following three features: underdevelopment (hypoplasia) of the nerves that carry visual information from the eye to the brain (optic nerves); abnormal development of the structures that separate the right and left halves (the midline) of the brain; and hypoplasia of the hormone-producing gland (pituitary gland) at the base of the brain. The signs and symptoms of septo-optic dysplasia can vary widely among affected individuals. Less than half of people with septo-optic dysplasia have all three of the main features.

In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors play a role in causing this disorder. Septo-optic dysplasia is more common in children born to young women who are pregnant for the first time. Children also have an increased risk of septo-optic dysplasia if they were exposed to alcohol or specific medications or drugs before birth, or if their mothers had certain viral infections while pregnant.  A disruption in blood flow to certain areas of the brain during critical periods of development may also increase the risk of septo-optic dysplasia.

Septo-optic dysplasia affects approximately 1 in 10,000 newborns.

Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family.

Published Date: May 07, 2025
Published By: National Institutes of Health