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青光眼的分子遗传学研究进展 被引量:13

Advances in molecular genetics of glaucoma
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摘要 青光眼是主要致盲眼病,青光眼性视神经退行性病变的特征表现为视网膜神经节细胞(RGCs)凋亡、视神经萎缩和视野缺损,眼压升高是青光眼视神经结构和功能损害主要的危险因素.原发性开角型青光眼(POAG)、慢性闭角型青光眼(CACG)以及剥脱性青光眼(XFG)是全球范围常见的青光眼类型.青光眼受遗传因素、环境因素的共同影响,其中遗传因素在几种主要类型的青光眼发病中均发挥重要作用.近年来,随着人类遗传学研究的快速发展和研究技术的不断提高,人们对青光眼的发病基础有了更多的认识,在青光眼发病相关的基因研究方面取得了较大的进步,一些致病基因及其致病机制相继被揭示.本文中对POAG、CACG、XFG及其他类型青光眼的分子遗传学研究进展进行综述. Glaucoma is the most common cause of irreversible blindness worldwide.The major performances of glaucoma optic neuropathy are progressive loss of retinal ganglion cells (RGCs),specific visual field defect and optic atrophy induced by elevated intraocular pressure.Glaucoma primarily includes primary open angle glaucoma (POAG),chronic angle-closure glaucoma (CACG) and exfoliation glaucoma (XFG).Recent studies showed that genetic factor and environmental factor participate in the pathogenesis of glaucoma,and the contributions of genetic factor to glaucoma are widely concerned,and some disease-causing gene and their pathogenic mechanisms are sequentially announced.A comprehensive discussion of the advances in molecular genetics of glaucoma is included in this paper.
出处 《中华实验眼科杂志》 CAS CSCD 北大核心 2015年第3期263-269,共7页 Chinese Journal Of Experimental Ophthalmology
关键词 人类 青光眼/遗传学 突变 青光眼/病因学 Humans Glaucoma/genetics Mutation Glaucoma/etiology
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参考文献62

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