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Kocaeli Üniversitesi Tıp Fakültesi Göz Hastalıkları A.D., Kocaeli, Prof. Dr. Pseudoexfoliation syndrome (PXS) is a common age-related disorder in which abnormal fibrillar matrix material is produced and accumulated in many ocular tissues. PXS may be seen between 10% and 20% of the general population over age of 60 and it is the most common identifiable cause of open angle glaucomas throughout the world. Recently, there is increasing evidence for systemic associations of PXS with cardiovascular and cerebrovascular system disease.
The exact etiology, pathogenesis of PXS and chemical composition of pseudoexfoliation material are still unknown. Most recently, Thorleifsson et al showed a highly significant association between 3 single nucleotide polymorphism (SNPs) in thelysyl oxidase-like protein 1(LOXL1) and pseudoexfoliation glaucoma. Also, other genetic studies have confirmed the strong association between SNPs in the LOXL1 and pseudoexfoliation in a various worldwide populations. LOXL1 is one of the member of a family of proteins that catalyze the polymerization of tropoelastin to form the mature elastin polymer. The defective gene might contribute to abnormal synthesis of elastic fibers in pseudoexfoliation syndrome.
Pseudoexfoliation material has a complex nature that can not explained by only LOXL1 gene. Other genes related to elastic fiber and extracellular matrix synthesis may contribute to elastosis in pseudoexfoliation. Further studies are necessary to determine other genetic factors and environmental effects in patients with pseudoexfoliation syndrome. Keywords : Exfoliasyon, pseudoexfoliasyon, glaucoma, genetik, LOXL1