Pseudoexfoliation (PEX) glaucoma

Human Genetics

Head of Institute:
Prof. Dr. med. André Reis

Within the heterogeneous disease spectrum of glaucoma, pseudoexfoliation (PEX) glaucoma is considered a frequent, secondary subtype accounting for 25% to 70% of open-angle glaucoma worldwide and implying a high risk of blindness. It is thought to be caused mainly by the obstruction of the aqueous humor outflow pathways due to deposition of extracellular protein aggregates, leading to intraocular pressure elevation and subsequent glaucomatous optic nerve damage. This abnormal fibrillar material is produced in the course of a common age-related, generalized disorder of the extracellular matrix termed PEX syndrome, which affects both intra- and extraocular tissues. Although the exact molecular pathophysiology of this abnormal matrix process is still unknown, it has been characterized as a stress-induced elastosis associated with the excessive production and abnormal cross-linking of elastic microfibrils into fibrillar PEX aggregates. The prevalence of PEX syndrome and its associated ocular and systemic complications such as cardiovascular diseases dramatically increase with age. In fact, the prevalence rates can vary from 5% to 30% of persons over 60 years of age, constituting a growing global medical burden. PEX is likewise a complex genetic disorder and the same GWAS-based strategies are used as for adult-onset forms of glaucoma. Major contributions of the group to research on these secondary forms of glaucoma include Aung et al. 2017, Pasutto et. al. 2017, Aung et al. 2015, Zenkel et al. 2011,  Pasutto et al. 2008, Schlötzer-Schrehardt et al. 2008.