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

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。

Abstract:

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.