Abstract：
Glaucoma refers to a heterogenous group of disorders characterised by progressive loss of retinal ganglion cells and associated visual field loss. Both early-onset and adult-onset forms of the disease have a strong genetic component. Here, we summarise the known genetic associations for various forms of glaucoma and the possible functional roles for these genes in disease pathogenesis. We also discuss efforts to translate genetic knowledge into clinical practice, including gene-based tests for disease diagnosis and risk-stratification as well as gene-based therapies.
摘要：
青光眼是指一组异质性疾病,其特征在于视网膜神经节细胞的进行性丧失和相关的视野丧失。这种疾病的早发性和成人发作形式都具有很强的遗传成分。这里,我们总结了已知的各种形式的青光眼的遗传关联，以及这些基因在疾病发病机制中可能的功能作用。我们还讨论了将遗传知识转化为临床实践的努力，包括基于基因的疾病诊断和风险分层测试以及基于基因的治疗。
