Identification of Novel Mutations in the Ortholog of<i>Drosophila</i>Eyes Shut Gene (<i>EYS</i>) Causing Autosomal Recessive Retinitis Pigmentosa

This is the first report of molecular genetic analysis of EYS in a cohort of unrelated British and Chinese patients with RP. The results further the initial hypothesis that EYS is a major causative gene for recessive RP and emphasize the role of different types of mutations in disrupting the function of EYS.