Molecular genetics in glaucoma.

Molecular genetics in glaucoma.
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DOI:
10.1016/j.exer.2011.08.007
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发表时间:
2011-10
影响因子:
3.4
通讯作者:
Allingham, R. Rand
Allingham, R. Rand
中科院分区:
医学3区
文献类型:
--
作者:
Liu, Yutao;Allingham, R. Rand

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青光眼是一类疾病,其病理学特征是视网膜神经节细胞的逐渐丧失。临床上,青光眼表现为一种独特的视神经病变,伴有视野丧失。原发性开角型青光眼 (POAG)、慢性闭角型青光眼 (ACG) 和剥脱性青光眼 (XFG) 是全球最常见的青光眼形式,也是全球青光眼相关失明的最常见原因。许多遗传和环境因素导致青光眼表型。本综述探讨了 POAG、ACG、XFG 的遗传学研究现状,包括较不常见的青光眼形式:原发性先天性青光眼 (PCG)、发育性青光眼和色素分散性青光眼。
Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to glaucoma phenotypes. This review examines the current status of genetic investigations of POAG, ACG, XFG, including the less common forms of glaucoma primary congenital glaucoma (PCG), the developmental glaucomas, and pigment dispersion glaucoma.
全基因组关联研究将CSF1,OPTN和TNFRSF11A的变体确定为Paget骨骼疾病的遗传危险因素。
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