Septo-optic dysplasia (SOD), also known as de Morsier syndrome is a congenital malformation syndrome made manifest by hypoplasia (underdevelopment) of the optic nerve and absence of the septum pellucidum (a midline part of the brain). Vision in each eye can be unaffected, partially lost, or in some patients, completely absent.
Although not included in the name, hypopituitarism is sometimes included in the definition.
Neuroradiologically, intracra...
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Septo-optic dysplasia (SOD), also known as de Morsier syndrome is a congenital malformation syndrome made manifest by hypoplasia (underdevelopment) of the optic nerve and absence of the septum pellucidum (a midline part of the brain). Vision in each eye can be unaffected, partially lost, or in some patients, completely absent.
Although not included in the name, hypopituitarism is sometimes included in the definition.
Neuroradiologically, intracranial malformations associated with septo-optic dysplasia include agenesis of the septum pellucidum, schizencephaly, and lobar holoprosencephaly.
The optic nerve hypoplasia is generally manifested by nystagmus (involuntary eye movements, often side-to-side) and a smaller-than-usual optic disc. The degree of visual impairment is variable, and ranges from normal vision to complete blindness. When nystagmus develops, it typically appears by 1–8 months of age, and usually indicates that there will be a significant degree of visual impairment, but...
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