Molecular genetics of exfoliation syndrome
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Abstract
Exfoliation syndrome is an age-related disorder of the extracellular matrix, characterized by progressive accumulation of abnormal fibrillar material in several ocular and extraocular tissues. Although the exact etiopathogenesis is still unknown, several genetic and environmental factors appear to be involved in disease pathogenesis. Recently, single nucleotide polymorphisms in lysyl oxidase-like 1 have been found to be strongly associated with exfoliation syndrome. Dysregulation of lysyl oxidase-like 1 specifity and activity, an enzyme with a role in tropoelastin cross-linking and elastin homeostasis is thought to be involved in the development of exfoliation syndrome. This review aims to examine the recent genetic findings in the disease process.
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