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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07 Jan 2020

Posted at 10:53h in news, STSMs by
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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...

07 Jan 2020

Posted at 10:25h in news by
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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...

07 Jan 2020

Posted at 10:23h in news, STSMs by
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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...

18 Dec 2019

Posted at 09:17h in news by
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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...

17 Oct 2019

Posted at 13:03h in workshops by
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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/ ...

11 Oct 2019

Posted at 12:56h in publications by
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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...

25 Sep 2019

Posted at 09:22h in STSMs by
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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)....

25 Sep 2019

Posted at 08:50h in meetings by
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Successful meeting with wide participation of researchers, ophthalmologist, patient’s representatives and special interest groups in the 1st COST Action CA18116 MC/WG meeting celebrated last week in Paris. Grant execution updates, working group advancements as well as interesting scientific discussions were brought together in this aniridia-focused session funded by the COST program....