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Article

Phenotypic features of patients with NR2E3 mutations.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 2009

Pachydaki Sophia I, Klaver Carolyn C, Barbazetto Irene A, Roy Monique S, Gouras Peter, Allikmets Rando, Yannuzzi Lawrence A

Abstract excerpt

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. RESULTS: Three different...

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PMID: 19139342
DOI: 10.1001/archophthalmol.2008.534

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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