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Glaucoma is an optic neuropathy characterized by loss of retinal ganglion cells (RGCs) and consequently visual field loss. It is a complex and heterogeneous disease in which both environmental and genetic factors play a role. With the advent of genome-wide association studies (GWASs), the number of loci associated with primary open-angle glaucoma (POAG) have increased greatly. There has also been major progress in understanding the genes determining the vertical cup-disc ratio (VCDR), disc area (DA), cup area (CA), intraocular pressure (IOP), and central corneal thickness (CCT). In this review, we will update and summarize the genetic loci associated so far with POAG, VCDR, DA, CA, IOP, and CCT. We will describe the pathways revealed and supported by genetic association studies, integrating current knowledge from human and experimental data. Finally, we will discuss approaches for functional genomics and clinical translation.

Original publication




Journal article


Eye (London, England)

Publication Date





1285 - 1298


Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.


Retinal Ganglion Cells, Optic Disk, Animals, Humans, Optic Nerve Diseases, Glaucoma, Open-Angle, Disease Models, Animal, Intraocular Pressure, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Association Studies