Molecular mechanisms underlying primary open angle glaucoma

Primary open angle glaucoma (POAG) is a complex, multigenetic and heterogeneous optic neuropathy. It is an insidious disease that untreated leads to irreversible visual field loss and blindness. Worldwide, glaucoma causes around 12% of blindness. Although various risk factors have been established, the pathobiology of POAG is still largely obscure. In this thesis, we studied the genetic risk factors, molecular machinery and the tissues involved in POAG. We constructed a list of 65 (candidate) POAG disease genes. These genes could be annotated in only four functional molecular networks. The genes were involved in, amongst others, cell signaling, lipid metabolism, stress and immune process and developmental functions. In addition, we found that these 65 (candidate) POAG disease genes are often highly expressed in more than one POAG-involved tissue.
Furthermore, we studied the molecular machinery of the secretory neuro-epithelia of the eye and the brain, respectively the ciliary body epithelia (CBE) and choroid plexus epithelium (CPE), and their potential implications in POAG.