- 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, is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.
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.
Cause and Genetics
Type OMIM Gene Type 1 258100 SAG Type 2 613411 GRK1
It was discovered by Dr. Chuta Oguchi (1875-1945), A Japanese opthalmologist, in 1907.
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 258100
- ^ 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.
- ^ Hartnett, Mary Elizabeth; Antonio Capone, Michael Trese (2004). Pediatric Retina: Medical and Surgical Approaches Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN 978-0781747820.
- ^ "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.
ArrestinOguchi disease 1 MyelinPelizaeus–Merzbacher disease · Dejerine-Sottas disease · Charcot–Marie–Tooth disease 1B, 2J Pulmonary surfactant Cell adhesion molecule TetraspaninTSPAN7 (X-Linked mental retardation 58) · TSPAN12 (Familial exudative vitreoretinopathy 5) Other Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulatorsGTPase-activating protein G proteinARF: SAR1B (Chylomicron retention disease) ARL13B (Joubert syndrome 8) · ARL6 (Bardet–Biedl syndrome 3) MAP kinase Other kinase/phosphatase Signal transducing adaptor proteins Other
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