Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort

Abstract excerpt

BACKGROUND: Congenital stationary night blindness (CSNB) is a group of genetically and clinically heterogeneous non-progressive retinal disorders and can be classified based on fundus abnormalities as found in Oguchi disease or fundus albipunctatus (FA) or based on the absence of severe fundus abnormalities but altered electroretinography (ERG) findings. Here, we report the clinical and genetic findings of 46...

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