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Article

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

Molecular vision - 29 Jan 2011

Lacassagne Emmanuelle, Dhuez Aurore, Rigaudière Florence, Dansault Anouk, Vêtu Christelle, Bigot Karine, Vieira Véronique, Puech Bernard, Defoort-Dhellemmes Sabine, Abitbol Marc

Abstract excerpt

AIMS: To describe genetic and clinical findings in a French family affected by best vitelliform macular dystrophy (BVMD). METHODS: We screened eight at-risk members of a family, including a BVMD-affected proband, by direct sequencing of 11 bestrophin-1 (BEST1) exons. Individuals underwent ophthal...

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Source

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Identifiers

PMID: 21293734
PMCID: PMC3032275

Genes

BEST1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21293734-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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