This is a rare disorder (also known as De Morsier Syndrome) that may be diagnosed in early infancy, during childhood, or as late as adolescence. It is characterized by abnormal development (dysplasia) of certain structures within the central portion of the brain, affecting structures of the eyes; the hypothalamus (an area of the brain that plays a role in coordinating hormone function); and/or other portions of the brain. There may be underdevelopment (hypoplasia) of the optic nerves, the pair of nerves (second cranial nerves) that transmit impulses from the retina to the brain; absence of a certain membrane in the brain; and diminished pituitary gland activity.
Individuals may experience partial or complete blindness or mild to severe visual impairment; delays in skill development that require mental and muscular coordination; deficiencies of certain hormones resulting in growth retardation or short stature; and some additional abnormalities. Although some children with the disorder have normal intelligence, most may have learning disabilities or mental retardation. The cause of Septo-Optic Dysplasia is not fully understood and most cases are thought to occur randomly.