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Article

Variable phenotypic expressivity of Best's vitelliform dystrophy.

Ophthalmic paediatrics and genetics - 1 Sept 1993

Loewenstein A, Godel V, Godel L, Lazar M

Abstract excerpt

Two families with Best's vitelliform macular dystrophy (BVMD) were investigated ophthalmoscopically and electrophysiologically. Pedigree examination confirmed the autosomal dominant heredity of this disorder with variable expressivity. Extrafoveal vitelline deposits were present in some asymptomatic patients, strongly suggesting that these deposits represent variable expressivity of familial BVMD.

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Identifiers

PMID: 8115120
DOI: 10.3109/13816819309087629

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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.

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Variable phenotypic expressivity of Best's vitelliform dystrophy.PMID 8115120Read ↗

Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigreeSemantic proximity Read ↗

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

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.Semantic proximity Read ↗

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.Semantic proximity Read ↗

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

"Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".Semantic proximity Read ↗

Clinical and molecular genetic analysis of best vitelliform macular dystrophy.Semantic proximity Read ↗

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.Semantic proximity Read ↗

Novel Presenting Phenotype in a Child With Autosomal Dominant Best's Vitelliform Macular Dystrophy.Semantic proximity Read ↗

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.Semantic proximity Read ↗

A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.Semantic proximity Read ↗

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.Semantic proximity Read ↗

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