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Article

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Apr 2009

den Hollander Anneke I, McGee Terri L, Ziviello Carmela, Banfi Sandro, Dryja Thaddeus P, Gonzalez-Fernandez Federico, Ghosh Debashis, Berson Eliot L

Abstract excerpt

PURPOSE: Interphotoreceptor retinoid-binding protein (IRBP) has been considered essential for normal rod and cone function, as it mediates the transport of retinoids between the photoreceptors and the retinal pigment epithelium. This study was performed to determine whether mutations in the IRBP gene (RBP3) are associated with photoreceptor degeneration. METHODS: A consanguineous family was ascertained in which...

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Source

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Identifiers

PMID: 19074801
DOI: 10.1167/iovs.08-2497
PMCID: PMC2823395

Genes

RBP3

Variants

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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