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The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

1 Apr 2002

Abstract excerpt

Leber congenital amaurosis (LCA) is the most severe inherited retinal dystrophy resulting in markedly impaired vision or blindness at birth. LCA is characterized by an extinguished electroretinogram in infancy, which is thought to be indicative of an early and severe impairment of both the rod and cone photoreceptors in the human retina. Recently, the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1)...

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PMID: 11929855
DOI: 10.1093/hmg/11.7.823

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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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The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retinaPMID 11929855Read ↗

The Expression of the Leber Congenital Amaurosis Protein AIPL1 Coincides with Rod and Cone Photoreceptor DevelopmentSemantic proximity Read ↗

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.Semantic proximity Read ↗

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.Semantic proximity Read ↗

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

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans.Semantic proximity Read ↗

AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.Semantic proximity Read ↗

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.Semantic proximity Read ↗

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.Semantic proximity Read ↗

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.Semantic proximity Read ↗

Biochemical function of the LCA linked protein, aryl hydrocarbon receptor interacting protein like-1 (AIPL1). Role of AIPL1 in retina.Semantic proximity Read ↗

Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosisSemantic proximity Read ↗

The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.Semantic proximity Read ↗

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