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Article

Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.

Ophthalmic genetics - 1 Oct 2024

Mainguy Adam, Dhaenens Claire Marie, Poncet Anais, Billaud Fanny, Giraud Lyse, Zanlonghi Xavier, Masse Hélène, Le Meur Guylène

Abstract excerpt

BACKGROUND: This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vitreoretinochoroidopathy (ADVIRC). The study focuses on a case presenting a novel mutation in the BEST1 gene and its phenotype in the case's relatives, shedding light on the structural and functional intricacies underlying this rare ophthalmologic disorder. CASE PRESENTATION: A 33-year-old...

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Source

Identifiers

PMID: 38957071
DOI: 10.1080/13816810.2024.2368797

Genes

BEST1
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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