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Article

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

Investigative ophthalmology & visual science - 1 Apr 2015

Arno Gavin, Hull Sarah, Robson Anthony G, Holder Graham E, Cheetham Michael E, Webster Andrew R, Plagnol Vincent, Moore Anthony T

Abstract excerpt

PURPOSE: We present a detailed clinical and molecular study of four patients from two consanguineous families with a similar childhood-onset retinal dystrophy resulting from novel homozygous nonsense mutations in RBP3. METHODS: Four children with mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) were ascertained by whole exome sequencing and subsequent direct Sanger sequencing. Detailed...

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Source

Identifiers

PMID: 25766589
DOI: 10.1167/iovs.15-16520

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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