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| 先天性无虹膜二家系报道并文献复习 | |
| 引用本文： | 刘绮,向浩天,黄永志,周久模,刘旭阳,蔡素萍. 先天性无虹膜二家系报道并文献复习[J]. 国际眼科杂志, 2011, 11(1): 154-157. DOI: 10.3969/j.issn.1672-5123.2011.01.056 |
| 作者姓名： | 刘绮 向浩天 黄永志 周久模 刘旭阳 蔡素萍 |
| 作者单位： | 四川大学华西医院眼科,中国四川省成都市,610041 |
| 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。 |
| 关 键 词： | 先天性无虹膜 家系 Pax6基因 |
Report of two families with inborn aniridia and literature review |
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| Qi Liu,Hao-Tian Xiang,Yong-Zhi Huang,Jiu-Mo Zhou,Xu-Yang Liu and Su-Ping Cai. Report of two families with inborn aniridia and literature review[J]. International Eye Science, 2011, 11(1): 154-157. DOI: 10.3969/j.issn.1672-5123.2011.01.056 | |
| Authors: | Qi Liu Hao-Tian Xiang Yong-Zhi Huang Jiu-Mo Zhou Xu-Yang Liu Su-Ping Cai |
| Affiliation: | Qi Liu,Hao-Tian Xiang,Yong-Zhi Huang,Jiu-Mo Zhou,Xu-Yang Liu,Su-Ping Cai Department of Ophthalmology,West China Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China |
| 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. |
| Keywords: | inborn aniridia family Pax6 gene |
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