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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)69-74
Number of pages6
JournalJournal of VitreoRetinal Diseases
Volume4
Issue number1
DOIs
StatePublished - Jan 1 2020
Externally publishedYes

Keywords

  • BEST1
  • autosomal recessive bestrophinopathy
  • bestrophin
  • chorioretinal anastomosis
  • choroidal neovascularization
  • optical coherence tomography angiography
  • splicing mutation

ASJC Scopus subject areas

  • Ophthalmology

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