Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients-Reference-Cited by-同舟云学术

Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients

Published:2018-12-28 Issue:3 Volume:97 Page:247-259
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Luo Jingyi¹^ORCID,Lin Mingkai¹,Guo Xinxing²,Xiao Xueshan¹,Li Jiali¹,Hu Huan¹,Xiao Hui¹^ORCID,Xu Xiaoyu¹,Zhong Yimin¹,Long Shixian¹,Luo Guangwei¹,Mi Lan¹,Chen Xiangxi¹,Fang Lei¹,Wei Wei¹,Zhang Qingjiong¹,Liu Xing¹

Affiliation:

1. State Key Laboratory of Ophthalmology; Zhongshan Ophthalmic Center; Sun Yat-sen University; Guangzhou China

2. Wilmer Eye Institute; Johns Hopkins University; Baltimore MD USA

Funder

National Natural Science Foundation of China

Fundamental Research Funds of the State Key Laboratory of Ophthalmology

Natural Science Foundation of Guangdong Province

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13994/fullpdf

Reference39 articles.

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2. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options;Boon;Ophthalmology,2013

3. Childhood-onset autosomal recessive bestrophinopathy;Borman;Arch Ophthalmol,2011

4. Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life;Breukink;Clin Ophthalmol,2017

5. Biallelic mutation of BEST1 causes a distinct retinopathy in humans;Burgess;Am J Hum Genet,2008

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