Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy

Youning Zhang; Jennifer Danesh; Kyle M Green; Ryan J Schmidt; Jaclyn Biegel; Xiaowu Gai; Thomas C Lee; Amir H Kashani; Aaron Nagiel

doi:10.1177/2474126419880383

Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy

J Vitreoretin Dis. 2019 Oct 17;4(1):69-74. doi: 10.1177/2474126419880383. eCollection 2020 Jan-Feb.

Authors

Youning Zhang^{1

2}, Jennifer Danesh^{1

2}, Kyle M Green², Ryan J Schmidt³, Jaclyn Biegel³, Xiaowu Gai³, Thomas C Lee^{1

2}, Amir H Kashani², Aaron Nagiel^{1

2}

Affiliations

¹ Department of Surgery, The Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.
² Department of Ophthalmology, USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
³ Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.

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.

Keywords: BEST1; autosomal recessive bestrophinopathy; bestrophin; chorioretinal anastomosis; choroidal neovascularization; optical coherence tomography angiography; splicing mutation.

Publication types

Case Reports