Inside genetics and glaucoma

Glaucoma is a general term for a diverse group of complex disorders characterized by progressive degeneration of the optic nerve, leading to irreversible vision loss. It is the leading cause of irreversible blindness worldwide. As the global population ages, the number of people affected by the disease will increase dramatically; the number of people with glaucoma who are aged 40 to 80 years is expected to reach 112 million by 2040. Glaucoma disproportionately affects people of African and Asian descent and those living in urban areas. Men are also more likely to have primary open-angle glaucoma than women.¹ The economic and social burden of this reality is immeasurable; however, recent advances in genetic research show great promise in improving our ability to diagnose and treat glaucoma. Genome-wide association studies (GWAS) are rapidly identifying myriad genetic loci that play a role in the pathophysiology of the disease. This knowledge allows for further research into its biology and promotes the development of personalized glaucoma management, including risk prediction and targeted therapies.² The following is a brief overview of the scientific basis behind these discoveries and some of the major genetic loci that are emerging as contributors to glaucoma.