Genetics of pseudoexfoliation syndrome

被引：49

作者：

Challa, Pratap ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA

来源：

CURRENT OPINION IN OPHTHALMOLOGY | 2009年 / 20卷 / 02期

关键词：

exfoliation; genetics; glaucoma; lysyl oxidase-like 1; pseudoexfoliation; OPEN-ANGLE GLAUCOMA; LOXL1; GENE; EXFOLIATION GLAUCOMA; SEQUENCE VARIANTS; POLYMORPHISMS; ASSOCIATION; LENS; POPULATION; ELASTIN;

D O I：

10.1097/ICU.0b013e328320d86a

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose of review Pseudoexfoliation syndrome (XFS) is a late-onset and complex disorder that is strongly associated with the development of glaucoma. The purpose of this review is to discuss the inheritance patterns and recent genetic advances in the study of this disorder. Recent findings XFS has a strong familial association and recently, the lysyl oxidase-like 1 gene has been strongly associated with this disorder. This gene is involved in the synthesis and maintenance of elastic fibers and therefore has a strong biological rationale for being involved in this disorder. However, the exact relationship between lysyl oxidase-like 1 polymorphisms and the development of XFS has not been elucidated. Also, the value of genetic testing for this disorder has not been validated. Summary XFS is an important risk factor for glaucoma and lysyl oxidase-like 1 polymorphisms are strongly associated with XFS. The mechanisms behind glaucoma development and the value of genetic testing are not clear and further study is needed.

引用

页码：88 / 91

页数：4

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