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Article

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

Molecular vision - 22 Jul 2005

van der Spuy Jacqueline, Munro Peter M G, Luthert Philip J, Preising Markus N, Bek Toke, Heegaard Steffen, Cheetham Michael E

Abstract excerpt

PURPOSE: An unusual retinal vascular morphology in an enucleated eye from a patient with Leber congenital amaurosis (LCA) has been associated with a mutation in AIPL1. The AIPL1 protein is expressed in the pineal gland and retinal photoreceptors. In the retina, AIPL1 is expressed in both developi...

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Source

Identifiers

PMID: 16052170

Genes

AIPL1
NUB1
GFAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16052170-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Predominant rod photoreceptor degeneration in Leber congenital amaurosis.PMID 16052170Read ↗

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