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Molecular complexity of primary open angle glaucoma: current concepts

机译：原发性开角型青光眼的分子复杂性：当前概念

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摘要

Glaucoma is a group of heterogeneous optic neuropathies with complex genetic basis. Among the three principle subtypes of glaucoma, primary open angle glaucoma (POAG) occurs most frequently. Till date, 25 loci have been found to be linked to POAG. However, only three underlying genes (Myocilin, Optineurin and WDR36) have been identified. In addition, at least 30 other genes have been reported to be associated with POAG. Despite strong genetic influence in POAG pathogenesis, only a small part of the disease can be explained in terms of genetic aberration. Current concepts of glaucoma pathogenesis suggest it to be a neurodegenerative disorder which is triggered by different factors including mechanical stress due to intra-ocular pressure, reduced blood flow to retina, reperfusion injury, oxidative stress, glutamate excitotoxicity, and aberrant immune response. Here we present a mechanistic overview of potential pathways and crosstalk between them operating in POAG pathogenesis.
机译：青光眼是一组具有复杂遗传基础的异质性视神经病变。在青光眼的三种主要亚型中，原发性开角型青光眼（POAG）最常见。迄今为止，已发现25个基因座与POAG连锁。但是，只有三个潜在的基因（Myocilin，Optineurin和WDR36）被确定。另外，已经报道了至少30个其他基因与POAG相关。尽管在POAG发病机理中有很强的遗传影响，但只能通过遗传畸变解释该疾病的一小部分。青光眼发病机理的当前概念表明它是一种神经退行性疾病，由多种因素触发，包括由于眼内压引起的机械应激，视网膜血流量减少，再灌注损伤，氧化应激，谷氨酸兴奋性毒性和异常的免疫反应。在这里，我们介绍了在POAG发病机理中运作的潜在途径及其之间的串扰的机理概述。

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