Zhang Youning, Danesh Jennifer, Green Kyle M, Schmidt Ryan J, Biegel Jaclyn, Gai Xiaowu, Lee Thomas C, Kashani Amir H, Nagiel Aaron
Department of Surgery, The Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Department of Ophthalmology, USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
J Vitreoretin Dis. 2019 Oct 17;4(1):69-74. doi: 10.1177/2474126419880383. eCollection 2020 Jan-Feb.
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.
An observational case report is presented.
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 , including a silent exonic splicing mutation.
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.
本病例报告讨论了一例常染色体隐性遗传性Bestrophin病（ARB）患者双侧脉络膜视网膜吻合的情况，该患者对抗血管内皮生长因子治疗无反应及其相关的光学相干断层扫描血管造影（OCTA）表现。
呈现一份观察性病例报告。
一名8岁女孩最初在2岁时就诊，有多灶性周边中周部视网膜下黄色沉积物伴视网膜内和视网膜下液。双眼玻璃体内注射贝伐单抗治疗，反应甚微。OCTA显示存在脉络膜新生血管和脉络膜视网膜吻合。通过鉴定包括一个沉默外显子剪接突变在内的复合杂合突变，实现了ARB的分子诊断。
ARB患者视网膜下或视网膜内液可能因OCTA检测到的脉络膜视网膜吻合而加重。导致氨基酸无变化的沉默外显子突变可能被忽视，但在ARB中具有致病性。
