Glaucoma Services, LV Prasad Eye Institute, KAR Campus, Hyderabad, Telangana, India.
Indian J Ophthalmol. 2024 Jul 1;72(Suppl 4):S562-S567. doi: 10.4103/IJO.IJO_2685_23. Epub 2024 May 20.
Exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) represent a complex matrix of ocular age-related neurodegenerative changes. Numerous decades of research on this disease entity have highlighted the unique clinical features of ocular protein-complex aggregates, which lead to tissue dysfunction of the ocular outflow channels, leading to irreversible optic nerve damage and glaucoma. While genetic studies have reported several genes associated with XFS and XFG, numerous studies have shown their association with common systemic diseases such as ischemic heart disease, cerebrovascular accidents, and hypertension. Environmental factors are also reported to play a role in the disease pathogenesis by epigenetic control of gene expression and partly explain the difference in the prevalence rates of the disease process. Despite the identification of possible triggers for the disease onset or for the development of glaucoma, the exact mechanisms or the role of several reported risk factors in disease pathogenesis remain a mystery. This review comprehensively evaluated the several risk factors in XFS and XFG while discussing the interactive interplay between the risk factors that determine the disease onset or phenotype in XFS and XFG.
剥脱综合征（XFS）和剥脱性青光眼（XFG）代表了一种复杂的眼部年龄相关神经退行性变化的矩阵。对这种疾病实体的数十年研究强调了眼部蛋白质复合物聚集体的独特临床特征，这些聚集体导致眼外流出通道的组织功能障碍，导致不可逆的视神经损伤和青光眼。虽然遗传研究报告了与 XFS 和 XFG 相关的几个基因，但许多研究表明它们与常见的系统性疾病（如缺血性心脏病、脑血管意外和高血压）有关。环境因素也通过基因表达的表观遗传控制在疾病发病机制中发挥作用，并部分解释了该疾病过程发病率的差异。尽管已经确定了疾病发作或青光眼发展的可能诱因，但确切的机制或几个报道的风险因素在疾病发病机制中的作用仍然是一个谜。本综述全面评估了 XFS 和 XFG 中的几个风险因素，同时讨论了决定 XFS 和 XFG 疾病发病或表型的风险因素之间的相互作用。
