Kumar Sunil, Malik Manzoor Ahmad, K Sooraj, Sihota Ramanjit, Kaur Jasbir
Department of Ocular Biochemistry, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Glaucoma Research Facility and Clinical Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Genomics. 2017 Jan;109(1):27-35. doi: 10.1016/j.ygeno.2016.11.003. Epub 2016 Nov 13.
Glaucoma is a very common disorder of the eye wherein the disturbance of the structural or functional integrity of the optic nerve causes characteristic atrophic changes in the optic nerve, which may lead to specific visual field defects over time. Primary open angle glaucoma (POAG) is most frequent among the three principle glaucoma subtypes. With well-established role of genes like Myocilin (MYOC), Optineurin (OPTN) and WD repeat Domain 36, (WDR36), at least 29 genetic loci have been found till date to be linked to POAG. Moreover, association studies have found 66 loci with 76 genes associated to POAG till date with conflicting results. This particular study is to summarize the current knowledge regarding the change in glaucoma prevalence worldwide and in India from 1993 onwards and compiles all the studied genes that are involved in POAG pathogenesis in Indian population.
青光眼是一种非常常见的眼部疾病，其中视神经结构或功能完整性的紊乱会导致视神经出现特征性萎缩变化，随着时间的推移可能会导致特定的视野缺损。原发性开角型青光眼（POAG）是三种主要青光眼亚型中最常见的。由于肌纤蛋白（MYOC）、视紫质（OPTN）和WD重复结构域36（WDR36）等基因已确立的作用，迄今为止至少发现29个基因位点与POAG相关。此外，关联研究迄今已发现66个基因位点与76个与POAG相关的基因，但结果相互矛盾。这项具体研究旨在总结1993年以来全球和印度青光眼患病率变化的现有知识，并汇编所有参与印度人群POAG发病机制研究的基因。
