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Septo-Optic Dysplasia Synonym(s): Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Septo-optic Dysplasia?Is there any treatment? What is the prognosis? What research is being done? Organizations What is Septo-optic Dysplasia? Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems. Is there any treatment? What is the prognosis? What research is being done? March of Dimes Birth Defects Foundation
National Organization for Rare Disorders (NORD)
National Eye Institute (NEI)
National Institute of Child Health and Human
Development (NICHD)
National Institute of Diabetes and Digestive
and Kidney Diseases (NIDDK)
FOCUS Families
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