莱伯先天性黑蒙/早发性严重视网膜营养不良概述
Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
作者信息
Kumaran Neruban, Pennesi Mark E, Yang Paul, Trzupek Karmen M, Michaelides Michel
机构信息
UCL Institute of Ophthalmology, University College London, Moorfields Eye Hospital, London, United Kingdom
Epsom and St Helier University Hospitals NHS Trust, London, United Kingdom
The purpose of this overview is to: 1.. Briefly describe the clinical characteristics of nonsyndromic Leber congenital amaurosis (LCA) / early-onset severe retinal dystrophy (EOSRD); 2.. Review the genetic causes of nonsyndromic LCA/EOSRD; 3.. Review the differential diagnosis of nonsyndromic LCA/EOSRD with a focus on genetic conditions; 4.. Provide an evaluation strategy to identify the genetic cause of nonsyndromic LCA/EOSRD in a proband (when possible); 5.. Inform (when possible) medical management of nonsyndromic LCA/EOSRD based on genetic cause; 6.. Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of nonsyndromic LCA/EOSRD.
本综述的目的是
- 描述莱伯先天性黑蒙（LCA）/早发性严重视网膜营养不良（EOSRD）的临床特征；2. 回顾LCA/EOSRD的遗传病因；3. 提供一种评估策略，以确定先证者中LCA/EOSRD的遗传病因（如有可能）；4. 根据遗传病因（如有可能）告知LCA/EOSRD的医学管理；5. 告知LCA/EOSRD的遗传咨询。
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