Recent advances in molecular genetics of glaucoma
Recent advances in molecular genetics of glaucoma
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DOI：
10.1023/a:1026059800470
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发表时间：
2003-11
影响因子：
4.3
通讯作者：
K. Ray;A. Mukhopadhyay;Moulinath Acharya
中科院分区：
文献类型：
--
作者：
K. Ray;A. Mukhopadhyay;Moulinath Acharya
青光眼代表了一组不同的视神经疾病，具有不同的遗传基础。它通常会影响所有年龄段的人，伴随着眼压的上升。青光眼的主要类型有三种：原发性开角型青光眼(POAG)、原发性急性闭角型青光眼(PACG)和原发性先天性青光眼(PCG)，以及其他一些与发育异常有关的青光眼。近年来，POAG和PCG的分子遗传学研究取得了令人瞩目的进展。其中包括发现了导致青光眼孟德尔遗传的三种基因--myoclin、optineurin和CYP1B1--的缺陷。与青光眼相关的多个其他基因的单核苷酸多态的鉴定和药物敏感性的改变丰富了我们对青光眼复杂本质的认识。本文就青光眼的分子遗传学研究进展作一综述。
Glaucoma represents a heterogeneous group of optic neuropathies, with different genetic bases. It can affect all ages generally with a rise in intra-ocular pressure. Three major types of glaucoma have been reported: primary open angle glaucoma (POAG), primary acute closed angle glaucoma (PACG) and primary congenital glaucoma (PCG), as well as a few others associated with developmental abnormalities. In recent years impressive progress has been made in the molecular genetic studies of POAG and PCG. These include the discovery of three genes – Myocilin, Optineurin and CYP1B1 – defects in which results in Mendelian transmission of glaucoma. Identification of single nucleotide polymorphisms in multiple other genes that are associated with glaucoma and alteration of drug sensitivity are enriching our knowledge regarding the complex nature of the disease. This review attempts to present the recent progress made in the molecular genetics of glaucoma.