Septo-Optic Dysplasia

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Septo-optic dysplasia (SOD) is a rare congenital condition characterized by the malformation and underdevelopment of the optic nerve, pituitary gland dysfunction and/or septum pellucidum (midline part of the brain) absence. Two of these effects must be present for a diagnosis, and only 30% of those with SOD have all three. Signs and symptoms include blindness in one or both eyes, pupil dilation, rapid eye movement, delayed development, hypotonia, recurrent seizures, and abnormal movements.  The exact cause of SOD is unknown. While there is currently no cure for SOD, treatments can target specific symptoms to improve quality of life.

 

Organizations exist to help those dealing with septo-optic dysplasia in their lives.

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