Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease
Sign Up to like & getrecommendations! Published in 2020 at "Documenta Ophthalmologica"
DOI: 10.1007/s10633-020-09759-y
Abstract: Purpose The available literature regarding Oguchi disease is limited, with around 50 cases described to date. Caused by mutations to either the SAG gene coding for arrestin (Hayashi et al. in Ophthalmic Res 46:175–180, 2011)… read more here.
Keywords: wide field; dark adapted; true colour; oguchi disease ... See more keywords
A novel GRK1 mutation in an Italian patient with Oguchi disease
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1323341
Abstract: Oguchi disease is a rare autosomal recessive, non-progressive retinal disorder, first described in the Japanese population. It refers to cases of congenital stationary night blindness (CSNB) in which patients have a characteristic golden-yellow fundus reflex… read more here.
Keywords: grk1 mutation; disease; oguchi disease; novel grk1 ... See more keywords
Oguchi's disease: two cases and literature review
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DOI: 10.1177/03000605211019921
Abstract: Oguchi's disease is a rare form of congenital stationary night blindness, associated with light-dependent golden fundus discoloration. In this report, we describe two cases of Oguchi's disease, both of which had two characteristic features: congenital… read more here.
Keywords: literature review; cases literature; disease; two cases ... See more keywords
A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report
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DOI: 10.1186/s12886-022-02307-z
Abstract: Background Oguchi disease is a rare autosomal recessive form of congenital quiescent night blindness. Oguchi disease has been found to be associated with gene mutations in SAG and GRK1 , which are vital factors in… read more here.
Keywords: patient oguchi; oguchi disease; mutation; gene ... See more keywords
A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report
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DOI: 10.18502/ijph.v49i5.3219
Abstract: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness (CSNB) characterized by specific features such as golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon which is distinguishable by fundoscopy, and retinography.… read more here.
Keywords: sag gene; oguchi disease; homozygote mutation; antigen visual ... See more keywords