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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