The International Glaucoma Genetics Consortium, chaired by Professor David Mackey AO at the Lions Eye Institute, has just published the largest ever study on the genes causing glaucoma.
Using data from over 34,179 glaucoma patients from studies around the world, the team identified 127 genes, of which 44 were new discoveries. This opens pathways for developing new treatments for glaucoma as well as improving family screening for early identification of individuals at high risk.
Professor Mackey has been studying the genetics of glaucoma for nearly 30 years. He set up the Glaucoma Inheritance Study in Tasmania, seeing over 2,000 people with glaucoma and 3,000 of their relatives. This even included branches of families who were living in Western Australia.
In addition to studying people with glaucoma, he has been leading the eye examinations of several large population studies to assess the genes affecting eye pressure in people without glaucoma as well as genes influencing the optic nerve (the site of glaucoma damage). In Western Australia, this included 1,350 young adults in the Raine Study and 5,000 middle aged adults in the Busselton study.
We are now evaluating how well we can identify people at risk of glaucoma as part of our ongoing work with the Raine and Busselton studies.