Five major sequence variants and copy number variants in the <i>EYS</i> gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.

Abstract

This study showed that five major sequence variants and CNVs in the <i>EYS</i> gene account for one-third of Japanese patients with arRP and sRP, and these variants are also responsible for RP showing an autosomal dominant inheritance pattern. This is the first report showing the pathogenicity of three missense variants (p.(Gly843Glu), p.(Gly2186Glu), and p.(Ile2188Thr)) and the presence of CNVs in the <i>EYS</i> gene of Japanese patients with arRP and sRP.