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Article

Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.

Molecular medicine reports - 1 Oct 2017

Lin Ying, Li Tao, Gao Hongbin, Lian Yu, Chen Chuan, Zhu Yi, Li Yonghao, Liu Bingqian, Zhou Wenli, Jiang Hongye, Liu Xialin, Zhao Xiujuan, Liang Xiaoling, Jin Chenjin, Huang Xinhua, Lu Lin

Abstract excerpt

The aim of the present study was to investigate the clinical characteristics and the underlying genetic causes of Best vitelliform macular dystrophy (BVMD) in a sporadic case in a Chinese patient. A 10‑year‑old boy was diagnosed with BVMD; complete ophthalmic examinations were performed, including best‑corrected visual acuity, intraocular pressure, slit‑lamp examination, fundus photograph, optical coherence...

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Identifiers

PMID: 28791410
DOI: 10.3892/mmr.2017.7174
PMCID: PMC5647057

Genes

BEST1

Variants

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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