Oguchi disease

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Oguchi disease
ICD-9 368.61
OMIM 258100

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Oguchi disease is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.

Presentation

Oguchi disease presents as a congenital, static hemeralopia with diffuse yellow or gray coloration of the fundus under light conditions. After two to three hours in total darkness, the normal color of the fundus returns. This effect is known as the Mizuo-Nakamura phenomena, and is thought to be caused by the overstimulation of rod cells.[1]

Pathophysiology

Oguchi disease has an autosomal recessive pattern of inheritance.

Several mutations have been implicated in the pathogenesis of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.[2] The condition is more frequent in individuals of Japanese ethnicity.[3]

References

  1. Hartnett, Mary Elizabeth (2004). Pediatric Retina: Medical and Surgical Approaches Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN 978-0781747820.  Unknown parameter |coauthors= ignored (help)
  2. Online 'Mendelian Inheritance in Man' (OMIM) 258100
  3. "Oguchi Disease". Foundation Fighting Blindness. Retrieved 2007-05-25. 

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