ICD-9 / Health Information

Oguchi disease

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From Wikipedia, the free encyclopedia

ICDO = | OMIM = 258100| MedlinePlus = | MeshName = | MeshNumber = |Oguchi disease is a autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.

Presentation

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Oguchi disease presents as a congenital, static hemeralopia with diffuse yellow or gray coloration of the fundus. After two to three hours in total darkness, the normal color of the fundus returns. The condition is more frequent in individuals of Japanese ethnicity.

Pathophysiology

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Several mutations have been implicated in the pathogenesis of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.

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