Oguchi disease


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O·gu·chi dis·ease

(ō-gū'chē), [MIM*258100]
a rare congenital nonprogressive night blindness with diffuse yellow or gray coloration of fundus; after 2 or 3 hours in total darkness, fundus resumes normal color; autosomal recessive inheritance, caused by mutation in either the arrestin gene (SAG) on 2q or the rhodopsin kinase gene (RHOK) on 13q.
Farlex Partner Medical Dictionary © Farlex 2012

O·gu·chi dis·ease

(ō-gū'chē di-zēz')
A rare congenital nonprogressive night blindness with diffuse yellow or gray coloration of fundus; after two or three hours in total darkness, fundus resumes normal color; autosomal recessive inheritance, caused by mutation in either the arrestin gene (SAG) on 2q or the rhodopsin kinase gene (RHOK) on 13q.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Oguchi disease

(ō-goo′chē)
[Chuta Oguchi, Japanese ophthalmologist, 1875–1945]
Hereditary night blindness with onset in infancy. Commonly found in Japan, the disease is rare in the U.S.
Medical Dictionary, © 2009 Farlex and Partners

Oguchi,

Chuta, Japanese ophthalmologist, 1875-1945.
Oguchi disease - a rare congenital, nonprogressive night blindness.
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Oguchi disease is a rare form of congenital stationary night blindness which has autosomal recessive inheritance.
Keywords: Congenital stationary night blindness, Mizuonakamura phenomenon, Oguchi disease.
Oguchi disease is a rare autosomal recessive form of congenital stationary night-blindness that is characterized by a golden tapetal fundus reflex.
Oguchi disease is a very rare form of congenital stationary night blindness in which patients usually present with non progressive nyctalopia and Mizuo-Nakamura phenomenon.
Genetic studies have shown two causative mutant genes named as SAG (S antigen) and GRK1 (G protein coupled receptor kinase-1) for the pathogenesis of oguchi disease in Japanese and European population3.
We found SAG gene mutation in case-1 while GRK1 gene mutation in case-2.4 OCT (Topcon 3D OCT-1 Maestro) in Oguchi disease has shown changes in parafoveal region and some authors concluded the effect of prolonged dark adaptation on these changes with special focus on integrity of inner segement-outer segment (IS-OS) junction5,6.
It is concluded that Oguchi disease is a rare entity, therefore, it is difficult to ascertain the exact relationship between various OCT pattern and genetic mutations.
[A case of Oguchi disease with disappearance of golden tapetal-like fundus reflex after vitreous resection].
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
Shortening of the rod outer segment in Oguchi disease. Graefes Arch ClinExpOphthalmol.