Disease Information for Septo-optic Dysplasia (DeMorsier)

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;

Treatment for SOD is symptomatic; Hormone deficiencies may be treated with hormone replacement therapy; The optical problems associated with SOD are generally not treatable; Vision, physical, and occupational therapies may be required; --------------[NINDS/NIH 2007]---------------

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; ----------[NORD 2007]-------------

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