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Article

Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.

Investigative ophthalmology & visual science - 17 Oct 2011

Pennesi Mark E, Stover Niamh B, Stone Edwin M, Chiang Pei-Wen, Weleber Richard G

Abstract excerpt

PURPOSE: To describe in detail the clinical phenotype and electrophysiological features of three patients with Leber congenital amaurosis caused by mutations of AIPL1. METHODS: Ophthalmologic examination, color fundus photography, detailed electrophysiological assessment, and screening of AIPL1 were undertaken in three subjects. One patient also underwent visual field testing and spectral domain-optical coherence...

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Source

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Identifiers

PMID: 21900377
DOI: 10.1167/iovs.11-8298
PMCID: PMC3208025

Genes

AIPL1
ERG

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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