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Article

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

Ophthalmic genetics - 1 Jan 2000

Khan Kamron N, Carss Keren, Raymond F Lucy, Islam Farrah, Nihr BioResource-Rare Diseases Consortium, Moore Anthony T, Michaelides Michel, Arno Gavin

Abstract excerpt

Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy and ocular colobomata. This combination of clinical signs and consanguineous pedigree structure suggested a genetic basis for the disease, a hypothesis that was tested using whole genome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27892788
DOI: 10.1080/13816810.2016.1227453

Genes

RBP4

Provenance

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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