A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report
Sign Up to like & getrecommendations! Published in 2022 at "BMC Ophthalmology"
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
Sign Up to like & getrecommendations! Published in 2020 at "Iranian Journal of Public Health"
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