Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy. (January 2020)

• Record Type: Journal Article
• Authors: Zhang, Youning; Danesh, Jennifer; Green, Kyle M.; Schmidt, Ryan J.; Biegel, Jaclyn; Gai, Xiaowu; Lee, Thomas C.; Kashani, Amir H.; Nagiel, Aaron
• Is Part Of: Journal of vitreoretinal diseases. Volume 4:Number 1(2020)
• Page Start: 69
• Page End: 74
• Publication Date: 2020-01
• Subjects: autosomal recessive bestrophinopathy -- bestrophin -- BEST1 -- chorioretinal anastomosis -- choroidal neovascularization -- optical coherence tomography angiography -- splicing mutation; Retina -- Diseases -- Periodicals; Vitreous body -- Diseases -- Periodicals; Retina -- Diseases; Vitreous body -- Diseases; Periodicals; 617.735005
• DOI: 10.1177/2474126419880383
• Languages: English
• ISSNs: 2474-1264

Abstract

Purpose: This case report discusses a case of bilateral chorioretinal anastomoses in autosomal recessive bestrophinopathy (ARB) unresponsive to antivascular endothelial growth factor therapy and its associated optical coherence tomography angiography (OCTA) findings. Methods: An observational case report is presented. Results: An 8-year-old girl initially presented at age 2 years with multifocal midperipheral yellow subretinal deposits with intraretinal and subretinal fluid. She was treated with intravitreal injections of bevacizumab in both eyes with minimal response. OCTA revealed the presence of choroidal neovascularization and chorioretinal anastomoses. Molecular diagnosis of ARB was achieved with the identification of compound heterozygous mutations in BEST1, including a silent exonic splicing mutation. Conclusions: Subretinal or intraretinal fluid in ARB may be exacerbated by the presence of chorioretinal anastomosis detected on OCTA. Silent exonic mutations that cause no amino acid change can be overlooked but are pathogenic in ARB.