What causes septo-optic dysplasia?

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by the underdevelopment of the optic nerves and the septum pellucidum, a thin membrane in the brain. The exact cause of SOD is unknown, but several factors are believed to contribute to its development:

Genetic factors: SOD has been linked to various genetic mutations and chromosomal abnormalities. Mutations in genes such as HESX1, SOX2, and OTX2 have been found to be associated with SOD. These genes play crucial roles in the early development of the brain and eye structures.

Environmental factors: Certain environmental factors during pregnancy may also contribute to the development of SOD. For example, maternal exposure to certain toxins, infections, or medications, such as alcohol, certain drugs, or radiation, has been associated with an increased risk of SOD.

Vascular factors: Some cases of SOD are thought to result from disruptions in the blood supply to the developing brain and eyes. Abnormal development or problems with the formation of blood vessels in the developing brain can lead to insufficient oxygen and nutrient supply, resulting in the underdevelopment of the optic nerves and septum pellucidum.

Developmental abnormalities: Defects during early embryonic development can also lead to SOD. Disruptions in the normal developmental processes that involve the formation of the brain, eyes, and midline structures can result in the characteristic features of SOD.

It's important to note that SOD can occur as an isolated condition or in association with other syndromes or disorders. In some cases, SOD may be part of a broader genetic disorder or condition, such as CHARGE syndrome or Kallmann syndrome.