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Genetic analysis and clinical features of three Chinese patients with Oguchi disease.

Documenta ophthalmologica. Advances in ophthalmology - 1 Feb 2023

Wei Xing, Li Hui, Wu Shijing, Zhu Tian, Sui Ruifang

Abstract excerpt

BACKGROUND: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness caused by disease-causing variants in the rhodopsin kinase gene (GRK1) or the arrestin gene (SAG). Our study aims to describe the clinical features and identify the genetic defects for three Chinese patients with Oguchi disease. METHODS: We conducted detailed ophthalmologic examinations for three patients from...

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PMID: 36417138
DOI: 10.1007/s10633-022-09910-x

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