Phenotypic features of patients with NR2E3 mutations.

Objective: To describe the phenotypes of 5 patients with NR2E3 mutations.

Methods: Two patients with familial and 3 with sporadic early-onset nyctalopia and retinal pigment abnormalities were screened for mutations in the NR2E3 gene (OMIM 604485). The clinical course, fundus features, visual field test results, and fluorescein angiographic and electrophysiologic findings were compared.