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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Last December 2019, Arianne Van Velthoven, a phD student in stem-cell based regenerative medicine at Maastricht University (the Netherlands), returned from a scientific mission at Fondazione Banca degli Occhi del Veneto (Italy) under the supervision of Dr. Stefano Ferrari, where she has received intensive training in the know-how that allows for limbal cell transplant for the treatment of LSCD. This COST action #CA18116 scientific mission involved techniques such as: 3T3-J2 maintenance and irradiation, isolation and culturing of limbal cells from cadaveric samples, transplant preparation using fibrin glue gels and quality control assays (viability, life span, expression markers analysis, etc). This fruitful cooperation will enhance the research efforts being invested in the VISION project, a collaboration between the MERLN Institute for Technology-Inspired Regenerative Medicine (Maastricht University), the University Eye Clinic Maastricht (MUMC+) and the...

Aniridia-associated keratopathy (AAK) physiopathology is a multidimensional condition involving not only limbal stem cell deficiency, but also a dysfunction in the eye’s tear film as well as changes in inflammatory mediators that lead progressively to the opacification of the ocular surface. This is the final message of the talk given by Neil Lagali, Associate Professor at Linköping University, at the World Congress of Paediatric Ophthalmology and Strabismus celebrated last September 2019 in Paris. Studies by he and his colleagues have revealed the activation of six different immunomodulators as well as reduced levels of IL1-RA, leading to a reduced tear production and increased tear film osmolarity in patients presenting AKK. This discovery contributes to the understanding of the biology of AKK progression and may be crucial in helping diagnosis and treatment decisions in...

In the first COST-Aniridia STSM in October 2019, researchers in Saarland University Hospital, Aniridia-net.eu (Lorenz Latta) and Radboud University (Jo Huiqing Zhou) took the first steps to create a transcriptome blueprint of limbal epithelial cells in healthy as well as aniridic eyes, using aniridia samples from Saarland University Hospital and single cell RNA-seq technique, available at Dr. Zhou’s lab. These findings will provide insights into the understanding of limbal stem cell biology as well as into pathophysiologic changes of the disease. This collaboration was made possible thanks to COST actions networking tools ...

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. ...