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重大综述:剥脱综合征;疾病遗传学、分子生物学及流行病学进展

Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology.

作者信息

Aboobakar Inas F, Johnson William M, Stamer W Daniel, Hauser Michael A, Allingham R Rand

机构信息

Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.

Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.

出版信息

Exp Eye Res. 2017 Jan;154:88-103. doi: 10.1016/j.exer.2016.11.011. Epub 2016 Nov 11.

Abstract

Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of extracellular fibrillar material throughout the body. The most recognized disease manifestation is exfoliation glaucoma (XFG), which is a common cause of blindness worldwide. Recent developments in XFS genetics, cell biology and epidemiology have greatly improved our understanding of the etiology of this complex inherited disease. This review summarizes current knowledge of XFS pathogenesis, identifies gaps in knowledge, and discusses areas for future research.

摘要

剥脱综合征(XFS)是一种常见的与年龄相关的疾病,会导致细胞外纤维状物质在全身沉积。最广为人知的疾病表现是剥脱性青光眼(XFG),它是全球范围内导致失明的常见原因。XFS遗传学、细胞生物学和流行病学的最新进展极大地增进了我们对这种复杂遗传性疾病病因的理解。本综述总结了目前关于XFS发病机制的知识,找出了知识空白,并讨论了未来的研究方向。

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