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Article

A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.

Human genomics - 1 Aug 2017

Scimone Concetta, Donato Luigi, Esposito Teresa, Rinaldi Carmela, D'Angelo Rosalia, Sidoti Antonina

Abstract excerpt

BACKGROUND: Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA onset. Among these, the retinaldehyde-binding protein 1 gene, RLBP1, is the most frequently involved and several founder...

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Identifiers

PMID: 28764803
DOI: 10.1186/s40246-017-0114-6
PMCID: PMC5540190

Genes

RLBP1
TRIO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.PMID 28764803Read ↗

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A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS.Semantic proximity Read ↗

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