Oguchi disease


Oguchi disease
Oguchi disease
Classification and external resources
ICD-9 368.61
OMIM 258100

Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1,[1] is an autosomal recessive[2] form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.

Contents

Characteristics

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.[3]

Cause and Genetics

Oguchi disease has an autosomal recessive pattern of inheritance.

Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.[1]

Type OMIM Gene
Type 1 258100 SAG
Type 2 613411 GRK1

The condition is more frequent in individuals of Japanese ethnicity.[4]

Discovery

It was discovered by Dr. Chuta Oguchi (1875-1945), A Japanese opthalmologist, in 1907.

References

  1. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 258100
  2. ^ Maw, M. A.; John, S.; Jablonka, S.; Müller, B.; Kumaramanickavel, G.; Oehlmann, R.; Denton, M. J.; Gal, A. (May 1995). "Oguchi disease: suggestion of linkage to markers on chromosome 2q". Journal of Medical Genetics 32 (5): 396–398. doi:10.1136/jmg.32.5.396. PMC 1050438. PMID 7616550. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050438.  edit
  3. ^ Hartnett, Mary Elizabeth; Antonio Capone, Michael Trese (2004). Pediatric Retina: Medical and Surgical Approaches Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN 978-0781747820. 
  4. ^ "Oguchi Disease". Foundation Fighting Blindness. Archived from the original on 2007-04-06. http://web.archive.org/web/20070406041237/http://blindness.org/visiondisorders/causes.asp?type=21. Retrieved 2007-05-25. 

External links



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