机构：[1]Beijing Tongren Eye Center,Beijing Tongren Hospital,Beijing Institute of Ophthalmology,Capital Medical University,Beijing 100730,China.首都医科大学附属北京同仁医院研究所眼科研究所临床科室眼科眼底科[2]Department of Ophthalmology,University of California,San Francisco School of Medicine,San Francisco,CA,USA. 3Beijing Tongren Hospital,1 Dongjiaominxiang Street,Dongcheng District,Beijing 100730,China.临床科室眼科首都医科大学附属北京同仁医院首都医科大学附属同仁医院眼科(未分亚科)
Background Autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutations in theBEST1gene and always accompanied with refractory angle-closure glaucoma (ACG). The exact mechanism for the pan-ocular abnormalities in ARB is still unknown and the management of ACG in these cases is challenging. Case presentation A 26-year-old patient with a novel autosomal-recessively inherited c.1 A > G variant inBEST1diagnosed as ARB and ACG, presented as widespread vitelliform deposits in the posterior pole, retinoschisis in the macula, vitreoretinal interface abnormalities, shallow anterior chamber depth (ACD) and angle closure with uncontrolled intraocular pressure (IOP). Combined phacoemulsification, intraocular lens implantation and goniosynechialysis did not improve any clinical presentation. However, low dose transscleral cyclophotocoagulation with subsequent vitreous liquefaction effectively lowered IOP, deepened ACD, and rehabilitated retinoschisis in both eyes. Conclusions This case implied vitreous condition may play a pathogenic role in formation of retinoschisis and ACG in the patients with ARB. Treatments that induce vitreous liquefaction could be used to treat young ACG patients with ARB or other kinds of ACG to avoid vision-threatening post-operative complications.
基金：
The study is supported by Beijing Municipal Administration of Hospitals’
Youth Programme. Code: QML20190203.
第一作者机构：[1]Beijing Tongren Eye Center,Beijing Tongren Hospital,Beijing Institute of Ophthalmology,Capital Medical University,Beijing 100730,China.
共同第一作者：
通讯作者：
通讯机构：[1]Beijing Tongren Eye Center,Beijing Tongren Hospital,Beijing Institute of Ophthalmology,Capital Medical University,Beijing 100730,China.
推荐引用方式(GB/T 7714)：
Shi Yan,Tian Jiaxin,Han Ying,et al.Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report[J].BMC OPHTHALMOLOGY.2020,20(1):doi:10.1186/s12886-020-01543-5.
APA：
Shi, Yan,Tian, Jiaxin,Han, Ying,Oatts, Julius&Wang, Ningli.(2020).Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report.BMC OPHTHALMOLOGY,20,(1)
MLA：
Shi, Yan,et al."Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report".BMC OPHTHALMOLOGY 20..1(2020)
