Ray Kunal, Mukhopadhyay Arijit, Acharya Moulinath
Human Genetics and Genomics Division, Indian Institute of Chemical Biology, Jadavpur, Kolkata, India.
Mol Cell Biochem. 2003 Nov;253(1-2):223-31. doi: 10.1023/a:1026059800470.
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.
青光眼是一组具有不同遗传基础的异质性视神经病变。它通常会随着眼压升高而影响所有年龄段的人群。已报道的青光眼主要有三种类型：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相关的类型。近年来，在POAG和PCG的分子遗传学研究方面取得了令人瞩目的进展。这些进展包括发现了三个基因——肌纤蛋白（Myocilin）、视神经元凋亡抑制蛋白（Optineurin）和细胞色素P450 1B1（CYP1B1）——其缺陷会导致孟德尔式青光眼遗传。在与青光眼相关的多个其他基因中鉴定单核苷酸多态性以及药物敏感性的改变，正在丰富我们对该疾病复杂本质的认识。本综述试图介绍青光眼分子遗传学方面的最新进展。
