Genetics of pseudoexfoliation syndrome.
OBJECTIVE
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.


RESULTS
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.


CONCLUSIONS
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.
Challa
Pratap
P
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA. Chall001@mc.duke.edu
D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D017889:Exfoliation Syndrome / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005901:Glaucoma / Q000209:etiology; D006801:Humans; D011110:Polymorphism, Genetic
D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human