In patients with an adult form of primary glaucoma, primary open-angle glaucoma (POAG) is the most common form of glaucoma in all populations, affecting more than 60 million people worldwide. It presents with anatomical normal, open anterior chamber angle and occurs in the absence of any identifiable secondary cause (e.g. pseudoexfoliation, chronic uveitis etc.). Despite the unclear etiology, different eye tissues such as trabecular meshwork, ciliary body, retina, optic nerve and cornea are affected, suggesting that a series of different pathophysiological processes play a role in disease development.
Overall, these adult-onset glaucoma forms are complex diseases in which multiple genetic risk factors in combination with environmental factors are responsible for the development of the disorder. Despite the identification of some of these genetic risk factors, the biological basis of the disease is only poorly understood and the genetic factors contributing to its progression are not yet fully characterized. Therefore, the groups at the Institute participate in large genome wide association studies (GWAS) in collaboration with numerous other research groups within large international consortia are performed. Functional characterization of associated disease variants and transcriptome analysis in disease specific eye tissues are then performed in close collaboration with the working group of Prof. Schlötzer-Schrehardt to define the different biological processes involved. Key contributions of our groups include Pasutto et al. 2012, van Koolwijk et al. 2012, Fernandéz-Martinéz et al. 2011, Pasutto et al. 2009, Pasutto et al. 2008.