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

Last 14th & 15th may, during the Annual European Conference on Rare Diseases & Orphan Drugs (ECRD), Ivana Kildsgaard, Swedish member of Aniridia Europe and active ANIRIDIA-NET participant, presented an online poster about CA18116 action’s goals and strategic plan towards improving clinical management and research in aniridia patients. Organised by EURORDIS and co-organised by Orphanet and the DIA, the ECRD conference is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies. This 10th edition of ECRD, which took place exclusively online for the first time, was an unprecedented success, with a record 1,500 participants from 57 countries registered and 100+...

We are pleased to announce the upcoming thesis dissertation of one of ANIRIDIA-NET Action’s participants, Mrs. Hilde R. Pedersen from the University of South-Eastern Norway, which can be followed digitally via zoom using this link. Next May 12th at 13:00 pm CEST she will be presenting the key aspects and conclusions of this aniridia-focused investigative work titled «The Retina in Congenital Aniridia – Structural, Functional and Genetic Variability». Her thesis entails a thorough analysis of variations in genotype and retinal structure, and its implications in visual impairment in aniridia patients. Observations reveal that aniridia patients have fewer photoreceptors with a large variability in structural underdevelopment, causing major visual anomalies that can correlate to the patient’s PAX6 mutation genotype. Any questions...

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...