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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The European Association for Vision and Eye Research (EVER) Annual Congress held last October 2019 in Nice, France received a party of EU COST action ANIRIDIA-NET / #CA18116 members lead by Prof. Neil Lagali (Linköping University, Sweden) to present some of the recent European efforts to promote congenital aniridia research in a Special Interest Symposium. miRNA profiling of conjunctival cells (Lorenz Latta, University of Saarland), imaging of aniridia related abnormalities (Bogumil Wowra, University of Silesia), aniridia genotype-phenotype correlation (Dominique Bremond-Gignac, Necker University Hospital), novel keratoplasty techniques (Fabian Fries, University...

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...

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...

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...

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...

Don’t miss the upcoming European Association for Vision and Eye Research Conference (EVER 2019 http://www.ever2019.org/) that will be held in Nice on October 17-19, 2019. A team of Aniridia-net.eu action #CA18116 members are taking part in this Congress encouraging the basic, clinical and translational research concerning the eye and vision. Photo credit: http://www.ever2019.org/ ...

PURPOSE: To investigate fundus autofluorescence (FAF) and other fundus manifestations in congenital aniridia. METHODS: Fourteen patients with congenital aniridia and 14 age- and sex-matched healthy controls were examined. FAF images were obtained with an ultra-widefield scanning laser ophthalmoscope. FAF intensity was quantified in the macular fovea and in a macular ring surrounding fovea and related to an internal reference within each image. All aniridia patients underwent an ophthalmologic examination, including optical coherence tomography and slit-lamp biomicroscopy. RESULTS: Mean age was 28.4 ± 15.0 years in...

This is our first STSM Call for budget period 2019-2020. The missions have to start from May 1st, 2019 and finish before March 31st, 2020, one month before the end of the Grant Period (April 30th, 2020). STSM Call 1 AniridiaNet 2019-2020 STSM Userguide for Website Oct-2018 For more details, contact ANIRIDIA-NET STSM Coordinator: Dr Thomas RITTER (thomas.ritter@nuigalway.ie)....

Our ANIRIDIA-NET Training School 20_ _ will be hosted by _______ between _ _th – _ _th ____ 20_ _. The focus of this Training School will be on _____. Grants are available for Early Career Investigators to assist with the expenses of attending this Training School. Interested applicants should apply to attend this Training School and state whether they wish to be considered for a grant. You can also follow updates through @AniridiaNet Find here further information and application guidelines for ANIRIDIA-NET Training School 20_ _,...