{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:44:26Z","timestamp":1787013866825,"version":"build-2736575974"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,12,28]],"date-time":"2018-12-28T00:00:00Z","timestamp":1545955200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81570846"],"award-info":[{"award-number":["81570846"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2017A030313649"],"award-info":[{"award-number":["2017A030313649"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2019,5]]},"abstract":"Abstract<\/jats:title>\n \n Purpose<\/jats:title>\n \n The aim of this study was to describe the genetic and clinical characteristics of Chinese patients with autosomal recessive bestrophinopathy (\n ARB<\/jats:styled-content>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n This study presents a retrospective observational case series. Twenty\u2010one\n ARB<\/jats:styled-content>\n patients and 25 clinically healthy family members were recruited. The coding regions and adjacent intronic regions of\n \n BEST<\/jats:styled-content>\n 1\n <\/jats:italic>\n were analysed via Sanger sequencing. Clinical examinations, including ultrasound biomicroscopy, A\u2010scan, optical coherence tomography, fundus autofluorescence, fundus fluorescein angiography (\n FFA<\/jats:styled-content>\n ), indocyanine green angiography (\n ICGA<\/jats:styled-content>\n ) and visual electrophysiology, were reviewed.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Six novel mutations (c.380C>T, p.T127M; c.397A>G, p.N133D; c.500A>G, p.E167G; c.817G>A, p.V273M; c.174_176del, p.Q58del; and c.950_955del, p.S318_L319) and 8 previously reported mutations were identified. The p.R255W mutation had the highest frequency in our cohort. Twenty patients had serous retinal detachment with multifocal subretinal vitelliform deposits in the posterior poles. One patient exhibited chorioretinal atrophy.\n FFA<\/jats:styled-content>\n revealed peripheral vascular leakage in 10 patients, and\n ICGA<\/jats:styled-content>\n revealed hyperfluorescent spots in 8 patients. Visual electrophysiology was abnormal in all patients. Fifteen patients with angle closure (\n AC<\/jats:styled-content>\n ) or angle\u2010closure glaucoma (\n ACG<\/jats:styled-content>\n ) had shallower anterior chambers and shorter axial lengths than the patients with open angle, contributing to their risk of developing\n AC<\/jats:styled-content>\n \/\n ACG<\/jats:styled-content>\n . One patient developed\n AC<\/jats:styled-content>\n during the 7\u2010year follow\u2010up period. The misdiagnosis and missed rates were 35.3% and 58.8%, respectively.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n The six novel mutations and high frequency of p.R255W suggest ethnical differences in the\n \n BEST<\/jats:styled-content>\n 1\n <\/jats:italic>\n mutation spectrum among Chinese patients.\n \n BEST<\/jats:styled-content>\n 1\n <\/jats:italic>\n gene screening and detailed clinical examinations help establishing a diagnosis of\n ARB<\/jats:styled-content>\n . Clinical evaluations of the risk of developing\n AC<\/jats:styled-content>\n \/\n ACG<\/jats:styled-content>\n are recommended for\n ARB<\/jats:styled-content>\n patients.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/aos.13994","type":"journal-article","created":{"date-parts":[[2018,12,29]],"date-time":"2018-12-29T01:49:39Z","timestamp":1546048179000},"page":"247-259","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Novel\n \n BEST<\/scp>\n 1\n <\/i>\n mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8408-3880","authenticated-orcid":false,"given":"Jingyi","family":"Luo","sequence":"first","affiliation":[{"name":"State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat\u2010sen University Guangzhou 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