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Article

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2014

Crowley C, Paterson R, Lamey T, McLaren T, De Roach J, Chelva E, Khan J

Abstract excerpt

PURPOSE: Abnormalities in the BEST1 gene have recently been recognised as causing autosomal recessive bestrophinopathy (ARB). ARB has been noted to have a variable phenotypic presentation, distinct from that of autosomal dominant Best vitelliform macular dystrophy (BVMD). Both conditions are associated with deposits in the retina, a reduced or absent electro-oculography (EOG) light rise, and the risk of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fluorescein Angiography

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Source

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Identifiers

PMID: 24859690
DOI: 10.1007/s10633-014-9444-z
PMCID: PMC4074353

Genes

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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