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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News

Prof. Neil Lagali, Chair of the COST Action ANIRIDIA-NET and researcher at the Linköping University (Sweden), has recently given an interesting live webinar for the Denmark Aniridia Patient Association during its Annual meeting held in Fredericia (Denmark) on the 7th of March, 2020. In his talk, Dr. Lagali presented key findings on the association of genetic alterations and the different clinical manifestations and progression rates observed in the disease, findings that may lay the foundations for a better clinical management of aniridia patients in the near future. The goals and current activities within the COST Action ANIRIDIA-NET were also communicated to the group of assembled patients, families, and representatives.  In research as well as in clinical practice, patient involvement is...

Patients with congenital aniridia demonstrate altered tear osmolarity and inflammatory profile, as well as ocular surface damage that correlates with the development of meibomian gland dysfunction, keratopathy and dry eye disease. Patients also show foveal hypoplasia with diminished fundus autofluorescence intensity. These are the main conclusions of an aniridia-focused investigative work titled “Congenital Aniridia: Exploring Visual Disabling Manifestations in the Ocular Surface and Ocular Fundus through Clinical and Translational Approaches” that has involved the examination of up to 35 subjects with congenital aniridia, as well as an equivalent number of healthy subjects. This research was successfully defended as a PhD Thesis by its principal author, Dr. Erlend Sommer Landsend, MD, from Oslo, Norway, which took place on...

29 February 2020 will be the thirteenth International Rare Disease Day (www.rarediseaseday.org/) coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities on rare diseases. Aniridia is a rare disease because it affects a small percentage of the population. Each rare disease may only affect a handful of people scattered around the world, however there are over 300 million people living with one or more of over 6,000 identified rare diseases worldwide, each supported by family, friends and a team of carers that make up the rare disease community. Rare diseases are characterised by a broad diversity of disorders and symptoms, a lack of scientific knowledge on the disease, initial...

Elena Danielle, an MSc postgraduate at the Veneto Eye Bank Foundation (Italy) recently returned from a short scientific mission with the Skottman group at Tampere University (Finland) to share knowledge on primary limbal stem cell (LSC) culture and characterization techniques. During her visit, different LSC cultivation approaches were tested and compared to identify ABCG2-positive cells in primary limbal stem cells cultures obtained from fresh human as well as porcine corneas. These are the first experiments of a future research collaboration aiming to understand LSC behaviour under different conditions and to select highly regenerative cells for more effective LSC transplantation in aniridia patients. The picture shows Meri Vattulainen (front, PhD student at Skottman’s Lab), and Elena Danielle (behind) sharing knowledge on LSC...

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 of Saarland), tear film cytokine profiling (Erlend Sommer Landsend, Oslo University Hospital), and animal modelling of aniridia-related keratopathy (Daniel Aberdam, INSERM-Paris) were some of the research highlights discussed in this aniridia-focused symposium. ...