Aniridia is a devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual’s lifetime.
A congenital genetic mutation causes an underdeveloped retina, cataract, glaucoma, and a progressive ocular surface disease of stem cell deficiency and loss of corneal transparency. Classified as a rare disease (ORPHA:77), aniridia is extremely challenging for the ophthalmologist, with very few effective treatments available. This stems from a lack of adequate-sized patient populations to conduct coordinated clinical and research activities, and a lack of information exchange in assessing and treating aniridia, with expertise typically limited to geographically-dispersed centers. Although a rare disease, aniridia is associated with ocular surface pathology such as dry eye, inflammation, stem cell insufficiency, nerve degeneration, and vascularization – problems common to many ocular surface pathologies collectively affecting large populations.
ANIRIDIA-NET is a pan-European bottom-up network of researchers, ophthalmologist, trainees, aniridia patients organizations, industry and special interest groups funded by the European Cooperation in Science and Technology (COST) program (link) to improve aniridia clinical management and promote innovative research and development of new alternatives for its diagnosis and treatment. The goals of ANIRIDIA-NET are therefore to:
To tackle the challenge of improving our scientific understanding and medical treatments for aniridia and particularly aniridia-associated keratopathy (AAK), the following research coordination objectives will be implemented:
Following the research coordination objectives outlined above, ANIRIDIA-NET aims to build the following capacities:
If you are interested in the ANIRIDIA-NET Action, there are several ways of getting involved, these are summarized on the COST website. If you want to take part in our activities, please contact the chair of the Action or the Leader of the working group you are most interested in.