Open-angle glaucoma

Open-angle glaucoma (OAG) is an important cause of irreversible blindness. In OAG, loss of retinal ganglion cells leads to damage of the optic nerve. This causes visual field loss and eventually blindness. Changes in the optic nerve head (ONH) can be examined with confocal scanning laser ophthalmoscopy (Heidelberg Retina Tomograph [HRT]), scanning laser polarimetry (GDx) or Optical Coherence Tomography (OCT). Important risk factors for OAG are elevated intraocular pressure (IOP), high age, myopia, ethnicity, thin central corneal thickness, and a positive family history for OAG. However, the pathophysiology still remains largely unknown.

In order to improve the diagnosis and learn more about the pathophysiology of this blinding disease, the main objectives of the research described in this thesis were to: 1) address the diagnostic utility of the OCT scan for OAG, 2) elucidate new risk factors for OAG or IOP, 3) identify novel genetic variants associated with OAG or its endophenotypes, and 4) assess the functional consequences of genetic variants associated with OAG. Our study populations included the population-based Rotterdam Study, the Erasmus Rucphen Family (ERF) Study, population-based studies from the European Eye Epidemiology (E3) Consortium and population-based and OAG case-control studies from the International Glaucoma Genetics Consortium (IGGC).