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Article

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.

Investigative ophthalmology & visual science - 1 May 2009

Jacobson Samuel G, Aleman Tomas S, Cideciyan Artur V, Roman Alejandro J, Sumaroka Alexander, Windsor Elizabeth A M, Schwartz Sharon B, Heon Elise, Stone Edwin M

Abstract excerpt

PURPOSE: To quantify the residual vision in Leber congenital amaurosis (LCA) caused by RPE65 mutations. METHODS: Patients with RPE65-LCA (n = 30; ages, 4-55) were studied using electroretinography (ERG), full-field stimulus testing (FST), kinetic and static threshold perimetry, and optical coherence tomography (OCT). RESULTS: All patients with RPE65-LCA had abnormal ERGs even at the youngest ages. There were no...

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Source

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Identifiers

PMID: 19117922
DOI: 10.1167/iovs.08-2696
PMCID: PMC2731629

Genes

RPE65
FST
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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