Abstract
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.
Funder
Beijing Municipal Administration of Hospitals’ Youth Programme
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology,General Medicine
Cited by
10 articles.
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