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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Shi, Yan Tian, Jiaxin Han, Ying Oatts, Julius Wang, Ningli |
| 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. |
| Related Links | https://bmcophthalmol.biomedcentral.com/counter/pdf/10.1186/s12886-020-01543-5.pdf |
| Ending Page | 7 |
| Page Count | 7 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712415 |
| DOI | 10.1186/s12886-020-01543-5 |
| Journal | BMC Ophthalmology |
| Issue Number | 1 |
| Volume Number | 20 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2020-07-09 |
| Access Restriction | Open |
| Subject Keyword | Ophthalmology Autosomal recessive bestrophinopathy Angle closure glaucoma Small dose transscleral cyclophotocoagulation Vitreous liquefaction |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Ophthalmology |
| Journal Impact Factor | 1.7/2023 |
| 5-Year Journal Impact Factor | 2/2023 |
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