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

被引:95
作者
Aboobakar, Inas F. [1 ]
Johnson, William M. [1 ]
Stamer, W. Daniel [1 ]
Hauser, Michael A. [1 ]
Allingham, R. Rand [1 ]
机构
[1] Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA
关键词
Exfoliation syndrome; Glaucoma Pseudoexfoliation; LOXL1; CACNA1A; TGF-beta; 1; Homocysteine; GWAS; Gene-environment interaction; PRIMARY OPEN-ANGLE; LYSYL OXIDASE-LIKE; GENOME-WIDE ASSOCIATION; TISSUE GROWTH-FACTOR; SINGLE NUCLEOTIDE POLYMORPHISMS; COMMON SEQUENCE VARIANTS; NORMAL-TENSION GLAUCOMA; PELVIC ORGAN PROLAPSE; PSEUDOEXFOLIATION SYNDROME; LOXL1; GENE;
D O I
10.1016/j.exer.2016.11.011
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
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. (C) 2016 Published by Elsevier Ltd.
引用
收藏
页码:88 / 103
页数:16
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