Pseudoexfoliation (PEX) syndrome represents an age-related systemic connective tissue disorder, which is frequently associated with severe complications including glaucoma and aortic aneurysms. Genetic association studies have linked it to common variants in the LOXL1 (lysyl oxidase-like 1) gene, but their impact on disease development remains unexplored. The aim of this project, therefore, is to analyze how functional regulatory LOXL1 variants confer susceptibility to PEX syndrome/glaucoma.
Department of Ophthalmology
Institute of Human Genetics