Genetics of pseudoexfoliation syndrome.

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Challa, P

Published Date

  • March 2009

Published In

Volume / Issue

  • 20 / 2

Start / End Page

  • 88 - 91

PubMed ID

  • 19240540

Pubmed Central ID

  • PMC2674400

Electronic International Standard Serial Number (EISSN)

  • 1531-7021

Digital Object Identifier (DOI)

  • 10.1097/ICU.0b013e328320d86a


  • eng

Conference Location

  • United States