Genetic and clinical diagnosis of a Chinese family with incomplete congenital stationary night blindness caused by a novel CACNA1F mutation

Abstract

We here describe the clinical features and identify the genetic cause of incomplete congenital stationary night blindness (CSNB) in a Chinese family. Three patients from a three-generation Chinese family were clinically examined. They exhibited nystagmus, hyperopia, and undetectable ERG a-wave and b-wave under scotopic conditions. Based on WES analysis and the subsequent data analysis, a novel c.677T>A missense mutation (p.V226E) was identified in CACNA1F, which co-segregated with the disease in this family. Our study extended the mutational and phenotypic spectra of CACNA1F-associated CSNB and indicated the significance of genetic testing in CSNB.