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

Human molecular genetics - 1 Sept 1998

Marquardt A, Stöhr H, Passmore L A, Krämer F, Rivera A, Weber B H

Abstract excerpt

Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium. Genetic linkage has mapped the disease locus to chromosome 11q12-q13.1 within a 980 kb interval flanked by markers at loci D11S4076 and uteroglobin. To identify the disease gene, we systematically...

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PMID: 9700209
DOI: 10.1093/hmg/7.9.1517

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

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Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).PMID 9700209Read ↗

VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.Semantic proximity Read ↗

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.Semantic proximity Read ↗

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Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).Semantic proximity Read ↗

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.Semantic proximity Read ↗

New <i>VMD2</i> gene mutations identified in patients affected by Best vitelliform macular dystrophySemantic proximity Read ↗

Mutations in IMPG1 cause vitelliform macular dystrophies.Semantic proximity Read ↗

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

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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.Semantic proximity Read ↗

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