Aniridia is a devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual’s lifetime.

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Ophthalmologists at the Saarland University Medical Centre including Prof. Barbara Käsmann-Kellner and Prof. Berthold Seitz have found specific variations of the primary gene that causes aniridia (also called PAX-6) that may account for the different subtypes and severity degrees of this devastating eye disease. This novel finding will improve disease characterization and diagnosis, facilitating treatment decisions as well as future research in patients suffering from aniridia. Hereditary aniridia is a rare, severely impairing disease principally caused by one (or several) mutations or alterations in the PAX-6 gene; however, patients present with a wide range of clinical manifestations, varying progression rates and with diverse prognoses. These wide variations hinder clinical management and make impracticable a general guideline for treatment. ...

Cornea Connect meeting was held at UCL’s Institute of Ophthalmology last May. Among other conditions, aniridia was brought to debate with very insightful talks about therapeutic options, current research and first hand patient's experiences on the impact of the disease. ...

The Network of Excellence in Corneal Regeneration (NExCR) managed by the COST Action BM1302 ended in 2017, serving to bring together researchers and provide new projects ideas ARREST BLINDNESS and ANIRIDIA-NET. Read more at: https://www.eurotimes.org/cornea-research-eu/ ...

For Join our EU network and create linkages to learn, share and stimulate research in the diagnosis and treatment of aniridia. Engage with this elevator-pitch video by ANIRIDIA-NET action Chair: Professor Neil Lagali. https://twitter.com/i/status/1123938415890915329 ...