| Autor: |
Kolovos A; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au., Hassall MM; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au., Siggs OM; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia; email: o.siggs@garvan.org.au.; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au., Souzeau E; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au., Craig JE; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au. |
| Abstrakt: |
Glaucoma is a clinically heterogeneous disease and the world's leading cause of irreversible blindness. Therapeutic intervention can prevent blindness but relies on early diagnosis, and current clinical risk factors are limited in their ability to predict who will develop sight-threatening glaucoma. The high heritability of glaucoma makes it an ideal substrate for genetic risk prediction, with the bulk of risk being polygenic in nature. Here, we summarize the foundations of glaucoma genetic risk, the development of polygenic risk prediction instruments, and emerging opportunities for genetic risk stratification. Although challenges remain, genetic risk stratification will significantly improve glaucoma screening and management. |
