先天性无虹膜二家系报道并文献复习  

Report of two families with inborn aniridia and literature review

作　　者：刘绮[1] 向浩天[1] 黄永志[1] 周久模[1] 刘旭阳[1] 蔡素萍[1] 

机构地区：[1]四川大学华西医院眼科,中国四川省成都市610041

出　　处：《国际眼科杂志》2011年第1期154-157,共4页International Eye Science

摘　　要：先天性无虹膜为一罕见而严重的眼科疾病,以虹膜发育不良为最显著特征,并多伴发角膜混浊、白内障、青光眼、斜视等异常,通常为常染色体异常的遗传性疾病。我们将对在四川大学华西医院眼科门诊中发现的2个先天性无虹膜家系进行报告,并对其病因、临床表现、治疗与预防作一复习及总结。The inborn aniridia,which is characterized by its hypoplasia of iris, is a rare and severe disease in ophthalmology. It usually accompanies other abnormalities, such as corneal opacity, cataract, glaucoma, anopsia and so on. And it is usually a hereditary disorder of chromosomal abnormality. In this article, we report two families with inborn aniridia, and review the etiological factor, clinical manifestation, therapy and prophylaxis of the aniridia.

关 键 词：先天性无虹膜 家系 PAX 6基因 

分 类 号：R773.1[医药卫生—眼科]