先天性颅神经异常支配眼病研究进展  

Research progress on congenital cranial dysinnervation disorders

作　　者：宁美真 杨先[2] 孔庆兰[2] 仇伟涛 李慧[2] 崔从先[2] 

机构地区：[1]第九人民医院眼科,山东省青岛市266002 [2]青岛大学医学院附属医院眼科,山东省青岛市266003

出　　处：《眼科新进展》2014年第1期94-97,共4页Recent Advances in Ophthalmology

基　　金：青岛市科技局资助项目(编号:04-2-JZ-96)~~

摘　　要：先天性颅神经异常支配眼病(concept of congenital cranial dysinnervation disorders,CCDD)为先天性、非进行性的颅神经肌肉疾病,其病因为一条或多条颅神经发育异常或完全缺如,从而引起肌肉的异常支配。这类疾病包括先天性眼外肌纤维化、Duane眼球后退综合征、Mbius综合征等。患者常表现为垂直眼球运动异常、水平眼球运动异常或面肌麻痹。许多CCDD是遗传性的,分子遗传学研究已经发现了多个遗传位点和致病基因,如FEOM1、KIF21A、ARIX、TUBB3。本文对近年来不同类型CCDD的临床表现以及分子遗传学的研究进展进行了综述。Congenital cranial dysinnervation disorders （CCDD） is summarized as a couple of dysinnervation that result from congenital abnormal development of the crani al nerve nuclei and （or） cranial nerves, then causing fibrosis of target muscles. CCDD include congenital extraocular muscles fibrosis, Duane retraction syndrome, MSbius syn drome. The syndrome is characterized by motility disturbances of innervated muscles. Most CCDD are associated with heredity, many genetic site and pathopoiesic gene have been found in recent years in molecular genetics, such as FEOM1, KIF21A, ARIX, TUBB3. This article reviews the research progress on the clinical features and molecular genetics of different types of CCDD in recent years.

关 键 词：先天性颅神经异常支配性疾病 先天性眼外肌纤维化 DUANE眼球后退综合征 

分 类 号：R777.4[医药卫生—眼科]