Bascom Palmer Eye Institute, University of Miami, Miami, FL 33136, USA.
Curr Opin Ophthalmol. 2013 Mar;24(2):167-74. doi: 10.1097/ICU.0b013e32835d5d11.
Exfoliation syndrome is the most common identifiable cause of glaucoma in the world. It has been associated with many ocular problems, such as secondary open angle glaucoma, corneal dysfunction, cataract, and zonular weakness, and may have systemic manifestations as well. This review focuses on recent genetic and pathophysiologic discoveries in the disease process.
Exfoliation syndrome is a progressive age-related condition of the extracellular matrix (ECM), which has various ocular implications, most notably open angle glaucoma, zonular abnormalities, and cataract formation. The pathophysiology behind exfoliation syndrome appears to involve both genetic and environmental components. The underlying genetic mechanisms are thought to be due to disruption of regulatory genes (lysyl oxidase-like and clusterin) that are involved in both the production and the breakdown of ECM material. Disease manifestations involve the accumulation and deposition of ECM fibrils throughout the eye thought to be engendered by an increased oxidative stress state.
A greater understanding of the genetic and pathophysiologic mechanisms underlying the disease may lead to the development of new approaches in its treatment and management.
剥脱综合征是世界上最常见的可识别的青光眼病因。它与许多眼部问题有关，如继发性开角型青光眼、角膜功能障碍、白内障和悬韧带松弛，也可能有全身表现。这篇综述主要关注该疾病过程中的最新遗传和病理生理发现。
剥脱综合征是一种进行性的年龄相关性细胞外基质（ECM）疾病，对眼睛有多种影响，最显著的是开角型青光眼、悬韧带异常和白内障形成。剥脱综合征的病理生理学似乎涉及遗传和环境因素。潜在的遗传机制被认为是由于调节基因（赖氨酰氧化酶样和载脂蛋白）的破坏，这些基因参与 ECM 物质的产生和分解。疾病表现为整个眼睛中 ECM 纤维的积累和沉积，这被认为是由氧化应激状态增加引起的。
对疾病遗传和病理生理机制的深入了解可能会为其治疗和管理带来新的方法。
