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Article

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

American journal of ophthalmology - 1 Feb 2004

Al-Khayer Kholoud, Hagstrom Stephanie, Pauer Gayle, Zegarra Hernando, Sears Jonathan, Traboulsi Elias I

Abstract excerpt

PURPOSE: To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene. DESIGN: Case report. METHODS: RPE65 mutation screening and search for sequence changes using Single Strand Conformation Polymorphism and direct DNA sequencing. Ophthalmic examination and electrophysiologic testing. RESULTS: A 35-year-old female...

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Source

Identifiers

PMID: 14962443
DOI: 10.1016/S0002-9394(03)00913-9

Genes

RPE65

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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