Genetics of Exfoliation Syndrome

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Exfoliation syndrome (XFS) is an age-related systemic disorder of the extracellular matrix with important ocular manifestations. In this disorder, exfoliation material (XFM) is deposited in the anterior chamber of the eye on the lens, iris, ciliary body, as well as other intraocular structures. This accumulation of XFM can obstruct the trabecular meshwork, resulting in elevated intraocular pressure and eventually causing glaucomatous optic neuropathy. In itself a highly hereditable condition, XFS is also the commonest recognizable cause of open-angle glaucoma worldwide, accounting for a majority of cases in some countries. Outside the eye, XFM deposits around blood vessels, particularly in association with elastic connective tissue, are found in numerous organs, including the skin, heart, and lungs. Long suspected to be a genetic disorder on the basis of familial aggregation studies, recent genome-wide association studies uncovered strong association between 7 genetic loci (LOXL1, CACNA1A, FLT1-POMP, TMEM136-ARHGEF12, AGPAT1, RBMS3, and SEMA6A) and increased risk of XFS. At the same time, a lower than usual sibling relative risk for XFS compared with other inherited conditions suggests XFS to be a complex disorder. The evidence to date suggests that additional genetic loci and biological insights for XFS remain to be identified through larger studies.

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