Genetics of Glaucoma

Developments in the field of human genetics led to the identification of genetic variants associated with different types of glaucoma. Their contribution to our understanding of the genetic architecture of glaucoma has similarly advanced for both Mendelian as well as complex inherited forms of glaucoma. We are at an historic point in genetic investigation as multiple technologies converge to reveal the inherited mechanisms of health and human disorders, including glaucoma. The advent of GWAS, exome and whole-genome sequencing, and multiple approaches examining tissue expression and gene regulation will fundamentally change our understanding on the pathogenesis of glaucoma. In order to fully utilize these investigations it is critically important to have full access to glaucoma-affected ocular samples for future research to perform functional genomics, gene expression, pathway analysis, and epigenetics studies. Ultimately this knowledge will expand our understanding of the various molecular pathways leading to glaucoma. These glaucoma-associated genes and pathways will promote the development of more effective diagnostic and treatment options for patients with this common, blinding disease.