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

Retinal cases & brief reports - 1 Jan 2020

Bagheri Saghar, Pantrangi Madhulatha, Sodhi Simrat K, Bagheri Sayeh, Oellers Patrick, Scholl Hendrik P N

Abstract excerpt

PURPOSE: To report the phenotypic and genotypic data of a patient with retinitis punctata albescens carrying a novel deletion in the RLBP1 gene. RESULTS: A woman of Iranian descent in her forties with a history of progressive visual deterioration since early childhood exhibited phenotypic features of retinitis punctata albescens with multiple white dots in the posterior pole and macular atrophy in both eyes. The...

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Identifiers

PMID: 28827498
DOI: 10.1097/ICB.0000000000000628

Genes

RLBP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS.PMID 28827498Read ↗

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