科恩综合征中的非渗漏性黄斑囊样水肿。
Nonleaking cystoid macular edema in Cohen syndrome.
作者信息
Beck Kinley D, Wong Robert W, Gibson James B, Harper C Armitage
机构信息
Department of Ophthalmology, University of Texas Health San Antonio, San Antonio, Texas.
Austin Retina Associates, Austin, Texas; Department of Surgery and Perioperative Services, Dell Medical School, University of Texas Austin, Austin, Texas.
出版信息
J AAPOS. 2019 Feb;23(1):38-39.e1. doi: 10.1016/j.jaapos.2018.05.010. Epub 2018 Aug 23.
An 11-year-old girl with a history of neutropenia, developmental delay, hypotonia, and intellectual disability was diagnosed with Cohen syndrome after genetic testing discovered homozygous mutation in the VPS13B gene. She was referred to a retinal specialist with a chief complaint of decreased peripheral vision. On examination, decreased visual acuity, pigmentary changes, and nonleaking cystoid macular edema were present in both eyes.
一名11岁女孩，有中性粒细胞减少、发育迟缓、肌张力减退和智力残疾病史，基因检测发现VPS13B基因纯合突变后被诊断为科恩综合征。她因外周视力下降为主诉被转诊至视网膜专科医生处。检查发现，双眼视力下降、色素改变和非渗漏性黄斑囊样水肿。
Zotero 插件