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Article

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

Ophthalmology - 1 Dec 2014

Meunier Isabelle, Manes Gaël, Bocquet Béatrice, Marquette Virginie, Baudoin Corinne, Puech Bernard, Defoort-Dhellemmes Sabine, Audo Isabelle, Verdet Robert, Arndt Carl, Zanlonghi Xavier, Le Meur Guylène, Dhaenens Claire-Marie, Hamel Christian P

Abstract excerpt

PURPOSE: To assess the frequency of and to characterize the clinical spectrum and optical coherence tomography findings of vitelliform macular dystrophy linked to IMPG1 and IMPG2, 2 new causal genes expressed in the interphotoreceptor matrix. DESIGN: Retrospective epidemiologic, clinical, electrophysiologic, and molecular genetic study. PARTICIPANTS: The database of a national referral center specialized in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25085631
DOI: 10.1016/j.ophtha.2014.06.028

Genes

IMPG1
IMPG2
BEST1
PRPH2
RPE

Variants

Provenance

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.

Related research

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Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.PMID 25085631Read ↗

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Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.Semantic proximity Read ↗

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