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Article

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

Nature genetics - 1 Jul 1992

Stone E M, Nichols B E, Streb L M, Kimura A E, Sheffield V C

Abstract excerpt

Macular degeneration is the most common cause of legal blindness in older patients in developed countries. Best's vitelliform dystrophy is an early-onset, autosomal dominant form of macular degeneration characterized by an egg-yolk-like collection of lipofuscin beneath the pigment epithelium of t...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 11
Female
Fluorescein Angiography
Genetic Linkage
Genotype
Humans
Macular Degeneration
Male
Odds Ratio
Pedigree
Probability
Visual Acuity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1302019
DOI: 10.1038/ng0792-246

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1302019-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.PMID 1302019Read ↗

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

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A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34.Semantic proximity Read ↗

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

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The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.Semantic proximity Read ↗

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.Semantic proximity Read ↗

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.Semantic proximity Read ↗

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