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青少年开角型青光眼临床表型及遗传学特征
引用本文:刘铁城.青少年开角型青光眼临床表型及遗传学特征[J].军医进修学院学报,2014(7):778-780.
作者姓名:刘铁城
作者单位:解放军总医院眼科,北京100853
基金项目:海南省自然基金项目(813221);解放军总医院扶持基金(2021FC-CXYY-1005)
摘    要:青少年开角型青光眼(juvenile—onsetopen—angle glaucoma,JOAG)是常染色体显性遗传性疾病,具有发病年龄早、眼压高和进展快等特点。本文回顾了JOAG的临床表型、相关基因及功能,为建立基因型和表型之间的联系,为探讨青光眼的发病机制提供帮助。

关 键 词:青少年开角型青光眼  基因  遗传性

Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma
LIU Tie-cheng.Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma[J].Academic Journal of Pla Postgraduate Medical School,2014(7):778-780.
Authors:LIU Tie-cheng
Institution:LIU Tie-cheng (Department of Ophthalmology, Chinese PLA General Hospital, Beijing 100853, China)
Abstract:Juvenile-onset open-angle glaucoma (JOAG) is an autosomal dominant hereditary disease, which is characterized by its early onset, high intraocular pressure (IOL) and rapid progression. Clinical phenotypes of JOAG patients and their genetic functions are reviewed in this article so as to establish the relationship between JOAG phenotypes and genotypes and to provide clues for the disease mechanism of glaucoma.
Keywords:juvenile-onset open-angle glaucoma  genes  hereditary
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