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Article

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.

Eye (London, England) - 1 Jan 2011

Vincent A, McAlister C, Vandenhoven C, Héon E

Abstract excerpt

PURPOSE: To describe the spectrum of phenotypic characteristics of BEST1-related autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a family with p.V86M mutation. METHODS: A retrospective review of the clinical, psychophysical, and electrophysiological phenotypes of six subjects with ADVIRC. Five family members were sequenced for mutations in the BEST1 gene. RESULTS: A heterozygous change, p.V86M (c.256G >...

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Source

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Identifiers

PMID: 21072067
DOI: 10.1038/eye.2010.165
PMCID: PMC3144636

Genes

BEST1

Variants

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.

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