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Article

Unilateral maculopathy associated with autosomal dominant bestrophinopathy.

Ophthalmic genetics - 1 Dec 2025

Cruz-Pimentel Miguel, Wright Thomas, Eng Kenneth T, Ballios Brian G

Abstract excerpt

PURPOSE: To describe the presentation of Best Vitelliform Macular Dystrophy (BVMD) as a unilateral maculopathy with bilateral retinal pigment epithelium (RPE) reduced function secondary to molecular changes or variants in BEST1 gene. METHODS: Retrospective case series. RESULTS: Both patients exhibited unilateral anatomical changes during fundus examination caused by pathogenic variants in BEST1. These changes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40556259
DOI: 10.1080/13816810.2025.2521657

Genes

BEST1
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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