中国实用儿科杂志

中国实用儿科杂志

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线粒体病相关眼科表现及遗传学特点

  

  1. 国家儿童医学中心  首都医科大学附属北京儿童医院神经内科，北京  100045
  • 出版日期:2018-04-06 发布日期:2018-04-16

Ophthalmological manifestations and genetic characteristics in mitochondrial disease

  1. Department of Neurology, Beijing Children’s Hospital Affiliated to Capital Medical University, Beijing 100045，China
  • Online:2018-04-06 Published:2018-04-16

摘要：

线粒体病是儿童时期最常见的遗传代谢病之一，可导致多系统损害。能量需求大的器官易受累。常合并眼科症状，甚至为首发表现或惟一表现。该文介绍几种常见以眼科表现为主的线粒体病眼部症状及遗传学表现，并对治疗进行概述。

关键词: 线粒体病, 眼科, 遗传学, 治疗

Abstract:

Mitochondrial diseases is one of the most common genetic metabolic diseases in childhood，which involve multiple systems，typically affecting high-energy-demand systems. Ophthalmological findings in mitochondrial disease are very common，and sometimes are the first and only manifestations. This paper introduces the ophthalmologic symptoms，genetic characteristics and therapy in several common mitochondrial syndromes.

Key words: mitochondrial diseases, ophthalmology, genetics, therapy