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Article

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.

JAMA ophthalmology - 1 Oct 2013

Dessalces Elodie, Bocquet Béatrice, Bourien Jérôme, Zanlonghi Xavier, Verdet Robert, Meunier Isabelle, Hamel Christian P

Abstract excerpt

IMPORTANCE: Retinitis punctata albescens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in the fundus, in most cases caused by mutations in RLBP1. OBJECTIVE: To study disease progression and visual function in RPA. DESIGN: We performed clinical and molecular investigations in patients with RPA at various ages, from November 5, 2003, through June 20, 2012, with...

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Identifiers

PMID: 23929416
DOI: 10.1001/jamaophthalmol.2013.4476

Genes

RLBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.PMID 23929416Read ↗

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