High Prevalence of Mutations in the<i>EYS</i>Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

Abstract

One-third of Japanese patients with nonsyndromic arRP carried probable pathogenic mutations in the EYS gene, including two founder mutations. Because the genotype was correlated with the phenotype, genotyping in the EYS gene could be a valuable tool for predicting long-term prognoses of Japanese patients with arRP and thus could be useful for genetic counseling and future gene therapy.