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Article

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).

Experimental eye research - 1 Jul 2007

Bakall B, Radu R A, Stanton J B, Burke J M, McKay B S, Wadelius C, Mullins R F, Stone E M, Travis G H, Marmorstein A D

Abstract excerpt

Best vitelliform macular dystrophy (BMD) is an autosomal dominant inherited macular degenerative disease caused by mutations in the gene BEST1 (formerly VMD2). Prior reports indicate that BMD is characterized histopathologically by accumulation of lipofuscin in the retinal pigment epithelium (RPE). However, this accumulation has not been quantified and the chemical composition of lipofuscin in BMD has not been...

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Source

Identifiers

PMID: 17477921
DOI: 10.1016/j.exer.2007.02.018

Genes

RPE
BEST1

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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