title: Review: The role of LOXL1 in exfoliation syndrome/glaucoma.
abstract: Exfoliation syndrome is a common cause of open-angle glaucoma. It is characterized by microscopic flakes of protein-rich material being deposited in both ocular and non-ocular tissues. While its mechanism is poorly understood, family- and population-based studies have established that the disorder has a strong genetic component. A further understanding of the relevant gene variants might help reveal the molecular mechanism behind exfoliation. The most-strongly associated genetic variants are found in the lysyl oxidase-like 1 (LOXL1) gene. However, two major risk alleles in the LOXL1 coding region are reversed between ethnic groups. It now appears the strong association between LOXL1 and XFS is due to non-coding variants that have not yet been identified. Such variants might alter LOXL1 expression, which is decreased in the late stages of exfoliation syndrome/glaucoma. Here we discuss LOXL1 as a risk gene for exfoliation syndrome and glaucoma.
authors: Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.
authors: Benjamin T
authors: BT
authors: Whigham
authors: R Rand
authors: RR
authors: Allingham
keywords: Exfoliation; Genetics; Glaucoma; LOXL1; Pseudoexfoliation
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