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Bestrophinopathies: Clinical Characteristics, Natural History, and Genetic Landscape.

Ophthalmology. Retina - 1 Apr 2026

Shi Jie, Tian Lu, Sun Teng-Yang, Xu Ke, Xie Yue, Zhang Xiao-Hui, Peng Xiao-Yan, Tang Xin, Jin Zi-Bing, Li Yang

Abstract excerpt

PURPOSE: To investigate the clinical features, natural course, and genetic landscape of bestrophinopathies. DESIGN: Retrospective case series. SUBJECTS: A total of 134 patients from 115 families with disease-causing variants in the BEST1 gene. METHODS: Medical recordings, retinal imaging (color fundus photography, fundus autofluorescence, spectral-domain OCT), and genetic findings were assessed. MAIN OUTCOME...

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Identifiers

PMID: 42559932
DOI: 10.1016/j.oret.2025.10.014

Genes

BEST1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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