Mutations in IMPG1 cause vitelliform macular dystrophies.

doi:10.1016/j.ajhg.2013.07.018

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Article

Mutations in IMPG1 cause vitelliform macular dystrophies.

American journal of human genetics - 5 Sept 2013

Manes Gaël, Meunier Isabelle, Avila-Fernández Almudena, Banfi Sandro, Le Meur Guylène, Zanlonghi Xavier, Corton Marta, Simonelli Francesca, Brabet Philippe, Labesse Gilles, Audo Isabelle, Mohand-Said Saddek, Zeitz Christina, Sahel José-Alain, Weber Michel, Dollfus Hélène, Dhaenens Claire-Marie, Allorge Delphine, De Baere Elfride, Koenekoop Robert K, Kohl Susanne, Cremers Frans P M, Hollyfield Joe G, Sénéchal Audrey, Hebrard Maxime, Bocquet Béatrice, Ayuso García Carmen, Hamel Christian P

Abstract excerpt

Vitelliform macular dystrophies (VMD) are inherited retinal dystrophies characterized by yellow, round deposits visible upon fundus examination and encountered in individuals with juvenile Best macular dystrophy (BMD) or adult-onset vitelliform macular dystrophy (AVMD). Although many BMD and some AVMD cases harbor mutations in BEST1 or PRPH2, the underlying genetic cause remains unknown for many affected...

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Identifiers

PMID: 23993198
DOI: 10.1016/j.ajhg.2013.07.018
PMCID: PMC3769927

Genes

IMPG1
BEST1
PRPH2

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in IMPG1 cause vitelliform macular dystrophies.PMID 23993198Read ↗

Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular LesionsSemantic proximity Read ↗

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

Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report.Semantic proximity Read ↗

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.Semantic proximity Read ↗

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.Semantic proximity Read ↗

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.Semantic proximity Read ↗

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).Semantic proximity Read ↗

NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.Semantic proximity Read ↗

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.Semantic proximity Read ↗

The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies.Semantic proximity Read ↗

Adult-Onset Foveomacular Vitelliform Dystrophy with a Novel BEST1 Variant: A Case Report and Multimodal Imaging CharacterizationSemantic proximity Read ↗

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