Genetics in retinal disease: complex traits at the EURETINA 2018

The EURETINA Congress, organized by the European Society of Retina Specialists (EURETINA) took place from 20th September to 23rd September 2018 at the Reed Messe Wien in Vienna, Austria. The conference covered areas like Vitreoretinal Surgery, Imaging, Uveitis/Inflammation, Diabetes and Retinal Vascular Disease.

Dr Caroline Klaver, co-coordinator of the EYE-RISK project, provided an update on the genetics of retinal disease at the EURETINA Main Session 8. She focused on age-related macular degeneration (AMD) and myopia.

Regarding AMD, Dr Klaver underscored that there have been 52 variants identified in 34 genes associated with the disease, and more than 200 rare variants concentrated mostly in 5 genes. Patients with rare variants not only are at increased risk of the disease, but also tend to have it bilaterally and with an earlier onset. One of the purposes of the EYE-RISK project is to deepen the understanding of the role of genetics in AMD.

The EYE-RISK project implements a multidisciplinary approach and it is a collaborative research effort to find a cure for AMD formed by 14 partners across Europe.