Built in close collaboration with patient associations, ERN-EYE is focused on rare eye diseases (RED) and involves 29 Hospitals in 13 Member States of the European Union (EU). ERN-EYE first and second year’s activities have been mainly focused on an inventory phase. The first major achievement has been to collectively revisit the ontologies concerning rare eye diseases (with ORPHANET and Human Phenotype Ontology). The second main action was the implementation of the virtual clinic driven by the European Commission tools with an ophthalmic customisation and launched during 2018. This will improve the care of patients with rare eye diseases across the EU.
The last 3 years of this project will entail the coordination of continued activities that have been launched in year 1 and year 2. Currently, many activities are being covered, such as the evaluation of genetic testing across EU and how to improve it, the development of a basic ERN-EYE registry, the development of research projects within the specific working groups topics (retina, paediatric ophthalmology, anterior segment, neuro-ophthalmology). Continuing this progression, ERN-EYE will improve its dissemination activities, especially towards patients and general public with particular effort to spread support in all ERN-EYE members EU languages to ensure the best accessibility for all. Finally, particular attention will be given to the evaluation & assessment of ERN-EYE activities.
The years 3 and 4 should bring full implementation and the last fifth year will be a consolidation year ensuring sustainability of the network and the settings developed during these 5 years for highly specialized patient care. The active involvement and support of patient groups through ePAGs is a highly valuable and continuous strength.