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Article

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

Acta ophthalmologica - 1 Jun 2015

Hipp Stephanie, Zobor Gergely, Glöckle Nicola, Mohr Julia, Kohl Susanne, Zrenner Eberhart, Weisschuh Nicole, Zobor Ditta

Abstract excerpt

PURPOSE: Mutations in the RLBP1 gene encoding the cellular retinaldehyde-binding protein (CRALBP) cause autosomal recessive progressive retinopathy, such as retinitis punctata albescens (RPA), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystrophy (NFRCD), retinitis pigmentosa (RP) and fundus albipunctatus (FA). We present the clinical heterogeneity and genetic findings of seven patients from five families...

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Source

Identifiers

PMID: 25429852
DOI: 10.1111/aos.12573

Genes

RLBP1
ERG
RPE

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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Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.PMID 25429852Read ↗

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A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.Semantic proximity Read ↗

Dual CRALBP isoforms unveiled: iPSC-derived retinal modelling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapySemantic proximity Read ↗

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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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Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.Semantic proximity Read ↗

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