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Article

A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.

American journal of ophthalmology - 1 Jul 2004

Demirci F Yesim K, Rigatti Brian W, Mah Tammy S, Gorin Michael B

Abstract excerpt

PURPOSE: To describe a patient with retinitis punctata albescens (RPA) associated with compound heterozygosity for two novel mutations in the RLBP1 encoding cellular retinaldehyde-binding protein (CRALBP). DESIGN: Observational case report. METHODS: The proband underwent a complete ophthalmic examination and leukocyte genomic DNA samples were obtained from him and his parents. The RLBP1 exons were analyzed by...

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Source

Identifiers

PMID: 15234312
DOI: 10.1016/j.ajo.2004.02.060

Genes

RLBP1

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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