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Article

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

Investigative ophthalmology & visual science - 5 Jan 2011

Jacobson Samuel G, Cideciyan Artur V, Aleman Tomas S, Sumaroka Alexander, Roman Alejandro J, Swider Malgorzata, Schwartz Sharon B, Banin Eyal, Stone Edwin M

Abstract excerpt

PURPOSE: To determine the human retinal phenotype caused by mutations in the gene encoding AIPL1 (Aryl hydrocarbon receptor-interacting protein-like 1) now that there are proof-of-concept results for gene therapy success in Aipl1-deficient mice. METHODS: Leber congenital amaurosis (LCA) patients (n = 10) and one patient with a later-onset retinal degeneration (RD) and AIPL1 mutations were studied by ocular...

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Source

Identifiers

PMID: 20702822
DOI: 10.1167/iovs.10-6127

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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