Rare Eye Diseases (RED) represent a wide group of rare diseases that display great genetic and phenotypical heterogeneity, while their epidemiology remains mainly unclear. RED affect a limited number of patients which are dispersed geographically and are the leading cause of visual impairment/visual loss in children and young adults in the EU. Currently the limited number of patients in combination with the scarcity of relevant knowledge, resources and expertise represent major barriers to early diagnosis, access to proper care and optimal treatment, and to the improvement of medical expertise, specialized training and research. However, visual impairment/visual loss poses a huge social-economic burden on individuals, the healthcare system and the society. ERN-EYE is dedicated to provide best care for EU RED patients.
By bringing together knowledge, new and existing resources and expertise across the EU, ERN-EYE mission is to facilitate access to a better, safer, high-quality, cost-effective, and cross-border healthcare system for all these European citizens with RED. ERN-EYE currently consists of 29 healthcare providers originating from 13 Member States and will cover mainly genetically-based RED. The heart of the ERN-EYE project lies in the creation of a virtual Rare Eye Diseases Clinic: EyeClin. As such, EyeClin will bring expertise to all EU citizens affected (or suspected to be affected) by a RED and will allow them secondary participation to initiatives generated or recognized by the ERN (registries, research, trials, etc.) EyeClin has been subdivided in 4 clinical departments: retinal RED, paediatric RED, neuro-ophthalmology RED, anterior segment RED, comparable to the ones found in a standard university hospital and 6 transversal departments corresponding to: genetic diagnosis, research activities, registries, guidelines, dissemination and outreach, medical training and teaching.
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Rare Eye Diseases (RED) represents a wide group of rare diseases that display great genetic and phenotypical heterogeneity, while therapy options remain scares. ERN-EYE currently consists of 29 healthcare providers originating from 13 Member States and covers mainly genetically-based RED. The ERN-EYE network was connected to ultimately deliver the best possible healthcare to all European people with RED. To this end we have been implementing communication tools and coordinating the creation of a Clinical Platform Management System dedicated (CPMS) to RED: CPMS/ EyeClin. This digital hub is central to the ERN-EYE processes and actions. CPMS/EyeClin will be subdivided in 4 clinical departments: retinal RED, paediatric RED, neuro-ophthalmology RED, andanterior segment RED, comparable to the ones found in standard university hospitals. In addition, six transversal departments corresponding to genetic diagnosis, research activities, registries, guidelines, dissemination and outreach, medical training and teaching ensure cross-sectional collaboration and added value. We made a solid contribution within the 1st year towards our goals. At the end of the 1st year, the inventory phase is all-but-completed, resulting in the identification of gaps and production of tools. In the 2nd year, we will utilise this valuable information. To make the utility of CPMS/EyeClin a reality and to start Phase 2 (implementation), we will have as a major objective to launch the CPMS/EyeClin and make it functional for the RED patients by customising the CPMS to ophthalmic diseases and making it accessible to all members of ERN-EYE. We will also coordinate the launch of the ERN-EYE training education program and the basic RED registry on the CPMS/EyeClin platform. Lastly, we will raise awareness about collaborative projects and funding options and about the added value of research in the field of RED for stakeholders. Thus, the 2nd year of ERN-EYE marks the start of Phase 2.
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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.

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ERN-EYE will set up a European Reference Network for Rare Eye Diseases (RED). RED is a large group rare diseases, with great genetic and phenotypical heterogeneity, and with complex or non-existing therapies. All together RED represent the first cause of blindness in children and young adults. Patient groups are highly involved in stimulating innovation towards clinical trials. The medical care organisation in the field of RED has remained centred at a national level, thus creating inequalities in care. The mission of ERN-EYE is to bring together knowledge, new and existing resources and expertise across the EU to facilitate access to a better, multidisciplinary, safer, high-quality, cost-effective, and cross-border healthcare system for all the European citizens affected by RED.
The heart of ERN-EYE lies in the creation of a virtual Rare Eye Diseases Clinic: EyeClin. Eyeclin will encompass the main subspecialties with RED at the level of the retina, the anterior segment, paediatrics and neuropathology. Genetic testing will be a major transversal topic as well as low vision aids. Via EyeClin, the European healthcare providers will have access to the available EU resources, knowledge and expertise. Furthermore, ERN-EYE will share and spread information and knowledge within and outside the network, collaborating closely at national and international level. Main activities within ERN-EYE will include a dedicated training programme; clinical guidelines and best clinical practices; launching and support for registries for epidemiology surveillance, clinical trial empowerment; sharing of information about highly innovative genetic tests and bottom-up research projects.
Overall, ERN-EYE will be an EU hub aiming to deliver high quality and accessible healthcare for patients with an emphasis on rapid translation of medical progresses with the maximum coverage at the EU level.

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