Definition

Septo-optic dysplasia (SOD) is a rare, congenital disorder. Findings include optic nerve hypoplasia with a thin or absent septum pellucidum and/or corpus callosum and pituitary dysfunction. Optic nerve hypoplasia is mandatory for the diagnosis of SOD.

Description

SOD also known as DeMorsier's syndrome is a combination of optic nerve underdevelopment (hypoplasia) with abnormalities of a part of the brain called the septum pellucidum and/or corpus callosum. Endocrine disorders such as dwarfism, decreased thyroid gland function (hypothyroidism), dehydration, delayed or precocious puberty and reduced blood sugar may occur from dysfunction of the pituitary gland of the brain. SOD has also been associated with congenital architectural brain anomalies.

Causes and symptoms

The cause of SOD is thought to be related to intrauterine viral infections or diabetes during pregnancy. Antiseizure...