Genetics of Glaucoma in Africa

Kathryn Burdon, PhD University of Tasmania

Co-Principal Investigators

Girum Gessesse, MD St. Paul's Hospital Millennium Medical College


Genetics can play a role in predicting who requires early treatment for blinding forms of glaucoma, however, we do not fully understand all the genetic contributions to this disease. There is a stark lack of data from non-European populations, particularly those from Africa, which is a region with one of the highest burdens of glaucoma. What we know about glaucoma genetics in Europeans does not always apply to other populations. This study will investigate genetics of glaucoma in Ethiopia, expanding our understanding of glaucoma and aiming to make genetic information useful in the diagnosis and management of glaucoma for patients all around the world.

Project Details

Our goal is to improve knowledge of the genetics of glaucoma and exfoliation syndrome in Ethiopia so that genetics can help guide treatment plans. Most of the research to discover genes for glaucoma has so far been done in white populations from Europe and USA. We don't know if the same genetic variants are responsible in other populations, or what other genes might be involved. We will start by looking at the contribution of known glaucoma and exfoliation genes in patients from Ethiopia to see if the genetic spectrum is similar or different to other populations. Then we will begin to look for new genes that are associated with these diseases in Ethiopia. As the study grows we will be able to combine forces with groups studying other African populations to compare the genetics, and to find new genes. This is important for patients who carry a disease causing genetic change. Genetics can help predict who is at high risk of glaucoma. This knowledge help doctors to treat patients at high genetic risk early, preventing irreversible vision loss, while patients with lower risk can avoid life long unnecessary medication. To do this well, we need a clear understanding of the genetics in each population so we can accurately predict risk for each patient and plan appropriate treatment and prevention.