Progress in the research on clinical features of Bestrophinopathies and mutations in BEST1 gene

Authors: Yang Shangying,  Sheng Xunlun
DOI: 10.3760/cma.j.cn115989-20200921-00659
Published 2022-10-10
Cite asChin J Exp Ophthalmol, 2022, 40(10): 976-980.

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Bestrophinopathies are a group of inherited macular dystrophies caused by BEST1 gene mutations including Best vitelliform macular dystrophy, adult-onset vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy and autosomal recessive bestrophinopathy.The main pathological mechanism of bestrophinopathies is that the primary lesion located in the retinal pigment epithelium will affect the photoreceptor cells.The mutations in BEST1 gene not only result in macular lesions, but also potentially affect the development of eyeball, and even cause serious complications such as angle-closure glaucoma and choroidal neovascularization.It is highly heritable and clinically heterogeneous.The same pathogenic mutation site in BEST1 can lead to different clinical phenotypes, which are complex and varied and can bring great confusion to clinicians, causing misdiagnosis and missed diagnosis the disease.This review aimed to summarize and analyze the clinical manifestations of bestrophinopathies and the research progress in BEST1 gene mutations, so as to improve the understanding of clinicians toward this kind of disease and provide reference for clinical practice and future research.

Key words:

Bestrophinopathies; BEST1 gene; Clinical features; Gene mutation

Contributor Information

Yang Shangying

Department of Ophthalmology, People’s Hospital of Ningxia Hui Autonomous Region, Ningxia Eye Hospital, Yinchuan 750001, China

Sheng Xunlun

Department of Ophthalmology, People’s Hospital of Ningxia Hui Autonomous Region, Ningxia Eye Hospital, Yinchuan 750001, China

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