Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the<i>EYS</i>Gene

Abstract

Although additional studies with more patients with mutations of the EYS gene are required, it appears that patients share a relatively uniform phenotype with near-normal central visual function up to their twenties. The patients homozygous for the c.4957_4958insA mutation showed a uniform course of visual acuity changes.