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Article

Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.

Investigative ophthalmology & visual science - 1 Jul 2017

Tian Lu, Sun Tengyang, Xu Ke, Zhang Xiaohui, Peng Xiaoyan, Li Yang

Abstract excerpt

Purpose: Mutations in the BEST1 gene can cause Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The aim of the current study was to establish the BEST1 mutation spectrum in Chinese patients with BVMD and ARB and to describe the phenotypic characteristics of patients carrying BEST1 mutations. Methods: A total of 37 probands with a clinical diagnosis of BVMD (17 patients) or...

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Source

Identifiers

PMID: 28687848
DOI: 10.1167/iovs.17-21999

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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