Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
Lijuan Huang,
Xueqing Bai,
Yan Xie
et al.
Abstract:Background
Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSNB and investigate myopic progression under genetic cause.
Results
Sixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes were NYX, CACNA1F, and TRPM… Show more
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