Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Oguchi disease
Introduction
Oguchi disease is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.
Presentation
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
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] The condition is more frequent in individuals of Japanese ethnicity.[3]
References
References
- ↑ 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) - ↑ Online Mendelian Inheritance in Man (OMIM) 258100
- ↑ “Oguchi Disease”. Foundation Fighting Blindness. Retrieved 2007-05-25.