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Article

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

European journal of ophthalmology - 1 May 2021

Torres-Costa Sónia, Ferreira Carla Sofia, Grangeia Ana, Santos-Silva Renato, Brandão Elisete, Estrela-Silva Sérgio, Falcão-Reis Fernando

Abstract excerpt

BACKGROUND: Retinitis punctata albescens is a form of retinitis pigmentosa characterized by white fleck-like deposits in the fundus, in most cases caused by pathogenic variants in RLBP1 gene. The purpose of this work is to report the phenotypic and genotypic data of a patient with retinitis punctata albescens carrying a deletion in the RLBP1 gene. RESULTS: An 8-year-old Caucasian female has been complaining of...

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PMID: 32345050
DOI: 10.1177/1120672120919064

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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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