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Septooptic Dysplasia
Condition Overview: Septooptic dysplasia is a disorder that results from incomplete development of the forebrain and pituitary gland. This condition is characterized by underdevelopment (hypoplasia) of the optic nerves that transmit impulses from the nerve-rich membranes lining the retina of the eye to the brain; abnormalities of midline structures of the brain such as the septum pellucidum and corpus callosum; and diminished activity of the pituitary gland, the hormone-producing gland at the base of the brain. Most people with septooptic dysplasia have abnormal eye movements (nystagmus) and some affected individuals have partial or complete blindness in one or both eyes. Some affected children have normal intelligence and others have learning disabilities and mental retardation. Deficiencies of certain hormones result in growth retardation and short stature. The cause of septooptic dysplasia is not fully understood. Most cases are thought to occur randomly for unknown reasons (sporadic), but some families have been reported with more than one affected child, suggesting autosomal recessive inheritance. |
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