Oguchi disease
From Wikipedia, the free encyclopedia
| Oguchi disease Classification and external resources |
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| ICD-9 | 368.61 |
|---|---|
| OMIM | 258100 |
Oguchi disease is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.
[edit] Presentation
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.[1]
[edit] Pathophysiology
Several mutations have been implicated in the pathogenesis of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.[2]
[edit] References
- ^ Oguchi Disease. Foundation Fighting Blindness. Retrieved on 2007-05-25.
- ^ Oguchi Disease. OMIM. Retrieved on 2007-05-25.
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