先天性纤维化综合征的分子遗传学研究进展  

Research advance in molecular genetics of congenital fibrosis syndrome

作　　者：陆莎莎[1] 赵晨[1] 赵堪兴[1] 

机构地区：[1]天津市眼科医院眼科研究所,300040

出　　处：《眼科新进展》2004年第6期491-493,共3页Recent Advances in Ophthalmology

基　　金：国家自然科学基金资助 (编号 :3982 551 0 )

摘　　要：先天性纤维化综合征 (congenitalfibrosissyndrome,CFS) ,主要包括先天性眼外肌纤维化 (congenitalfibrosisoftheextraocularmuscles,CFEOM)和Duane综合征 (Duanesyndrome,DS) ,是临床少见的先天性斜视综合征 ,临床表现为非进展性限制性眼肌麻痹 ,可伴有上睑下垂。传统观念认为此类疾病是由眼外肌原发性纤维化所致 ,然而近年来DS和典型的CFEOM(CFEOM1)的神经病理学研究结果以及CFEOM1和另外一种类型的CFEOM(CFEOM2 )的致病基因的确定 ,均提示了CFEOM的真正病因可能是原发于动眼神经和 (或 )滑车神经核的发育缺陷 ,而外展神经核类似的发育缺陷则是DS的致病原因。The congenital fibrosis syndrome,including congenital fibrosis of the extr aocular muscles and Duane syndrome,are rare congenital strabismus syn dromes that occur nonprogressive restrictive ophthalmoplegia with or with out ptosis.Although historically believed to result from primary extraocular mus cles fibrosis,these disorders should result from distinct,but analogous,dev elopmental defects of the oculomotor,trochlear,and abducens nuclei.This article tends to review upon the research advance in molecular genetics of different kin ds of congenital fibrosis of the extraocular muscles and Duane syndrome.

关 键 词：斜视 眼肌麻痹 遗传学 先天性纤维化 眼外肌 

分 类 号：Q341[生物学—遗传学]