Dewundara Samantha, Pasquale Louis R
aDepartment of Ophthalmology bHarvard Medical School, Massachusetts Eye and Ear cDivision of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Curr Opin Ophthalmol. 2015 Mar;26(2):78-81. doi: 10.1097/ICU.0000000000000135.
Exfoliation syndrome (XFS), the most common cause of secondary open angle glaucoma, is associated with significant ocular morbidity. Recent studies have pointed toward environmental components that may alter the risk of XFS development. This review focuses on the recent studies elucidating the role of environmental factors that play a role in the development of exfoliation syndrome.
In XFS, aberrant microfibril formation emanating from the cell-extracellular matrix interface admixes with other macromolecules and is cross-linked by lysyl oxidase like 1 (LOXL1) activity. A common gene variant in the LOXL1 enzyme, an enzyme critical for enhancing the tensile strength of collagen and elastin in extracellular matrices, has been found in approximately 90% of XFS cases. However, approximately 80% of controls also have disease-associated LOXL1 gene variants. These findings point toward other nongenetic factors influencing the development of XFS. Increasing latitude, solar radiation, climatic variables and dietary factors such as high coffee consumption and low dietary folate intake are among the nongenetic factors associated with increased risk of XFS.
A greater understanding of the environmental components associated with XFS may lead to lifestyle preventive strategies to ameliorate disease burden.
剥脱综合征（XFS）是继发性开角型青光眼最常见的病因，与严重的眼部疾病相关。近期研究指向了可能改变XFS发生风险的环境因素。本综述聚焦于阐明在剥脱综合征发生中起作用的环境因素的近期研究。
在XFS中，源自细胞-细胞外基质界面的异常微原纤维形成与其他大分子混合，并通过赖氨酰氧化酶样1（LOXL1）活性交联。在大约90%的XFS病例中发现了LOXL1酶中的一种常见基因变异，该酶对增强细胞外基质中胶原蛋白和弹性蛋白的抗张强度至关重要。然而，大约80%的对照也有与疾病相关的LOXL1基因变异。这些发现指向了影响XFS发生的其他非遗传因素。纬度增加、太阳辐射、气候变量以及饮食因素如高咖啡摄入量和低饮食叶酸摄入量是与XFS风险增加相关的非遗传因素。
对与XFS相关的环境因素有更深入的了解可能会带来改善疾病负担的生活方式预防策略。
