Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report
Abstract Background Autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutations in the BEST1 gene and always accompanied with refractory angle-closure glaucoma (ACG). The exact mechanism for the pan-ocular abnormalities in ARB is still unknown and the manage...
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doaj-8819e685e9444af28875346954bb52f92020-11-25T03:02:21ZengBMCBMC Ophthalmology1471-24152020-07-012011710.1186/s12886-020-01543-5Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case reportYan Shi0Jiaxin Tian1Ying Han2Julius Oatts3Ningli Wang4Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical UniversityBeijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical UniversityDepartment of Ophthalmology, University of California, San Francisco School of MedicineDepartment of Ophthalmology, University of California, San Francisco School of MedicineBeijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical UniversityAbstract Background Autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutations in the BEST1 gene 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 in BEST1 diagnosed 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.http://link.springer.com/article/10.1186/s12886-020-01543-5Autosomal recessive bestrophinopathyAngle closure glaucomaSmall dose transscleral cyclophotocoagulationVitreous liquefaction |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yan Shi Jiaxin Tian Ying Han Julius Oatts Ningli Wang |
spellingShingle |
Yan Shi Jiaxin Tian Ying Han Julius Oatts Ningli Wang Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report BMC Ophthalmology Autosomal recessive bestrophinopathy Angle closure glaucoma Small dose transscleral cyclophotocoagulation Vitreous liquefaction |
author_facet |
Yan Shi Jiaxin Tian Ying Han Julius Oatts Ningli Wang |
author_sort |
Yan Shi |
title |
Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report |
title_short |
Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report |
title_full |
Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report |
title_fullStr |
Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report |
title_full_unstemmed |
Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report |
title_sort |
pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report |
publisher |
BMC |
series |
BMC Ophthalmology |
issn |
1471-2415 |
publishDate |
2020-07-01 |
description |
Abstract Background Autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutations in the BEST1 gene 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 in BEST1 diagnosed 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. |
topic |
Autosomal recessive bestrophinopathy Angle closure glaucoma Small dose transscleral cyclophotocoagulation Vitreous liquefaction |
url |
http://link.springer.com/article/10.1186/s12886-020-01543-5 |
work_keys_str_mv |
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