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Article

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.

American journal of human genetics - 1 Jan 1994

Nichols B E, Bascom R, Litt M, McInnes R, Sheffield V C, Stone E M

Abstract excerpt

Vitelliform macular dystrophy (Best disease) is an autosomal dominant macular dystrophy which shares important clinical features with age-related macular degeneration, the most common cause of legal blindness in the elderly. Unfortunately, our understanding and treatment for this common age-related disorder is limited. Discovery of the gene which causes Best disease has the potential to increase our understanding...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8279475
PMCID: PMC1918069

Genes

ROM1
PYGM

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.PMID 8279475Read ↗

Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci.Semantic proximity Read ↗

Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.Semantic proximity Read ↗

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

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

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.Semantic proximity Read ↗

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

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.Semantic proximity Read ↗

Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.Semantic proximity Read ↗

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.Semantic proximity Read ↗

Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.Semantic proximity Read ↗

BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.Semantic proximity Read ↗

Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.Semantic proximity Read ↗

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