先天性眼外肌纤维化概述
Congenital Fibrosis of the Extraocular Muscles Overview
作者信息
Whitman Mary C, Jurgens Julie A, Hunter David G, Engle Elizabeth C
机构信息
Department of Ophthalmology, Boston Children's Hospital;, Assistant Professor of Ophthalmology, Harvard Medical School, Boston, Massachusetts
Department of Neurology, Boston Children’s Hospital;, Department of Neurology, Harvard Medical School, Boston, Massachusetts
The purpose of this overview is to: 1.. Describe the clinical characteristics of congenital fibrosis of the extraocular muscles (CFEOM); 2.. Review the genetic causes of CFEOM; 3.. Review the disorders to consider the differential diagnosis of CFEOM; 4.. Provide an evaluation strategy to identify the genetic cause of CFEOM in a proband (when possible); 5.. Review management of CFEOM; 6.. Inform genetic counseling of family members of an individual with CFEOM.
本综述的目的是
- 描述先天性眼外肌纤维化（CFEOM）的临床特征；2. 回顾CFEOM的遗传病因；3. 回顾需考虑CFEOM鉴别诊断的疾病；4. 提供一种评估策略，以确定先证者CFEOM的遗传病因（如有可能）；5. 回顾CFEOM的治疗；6. 为CFEOM患者的家庭成员提供遗传咨询。
Zotero 插件