For the Rare Disease Week 2021 Aniridia Europe organized the webinar “News from the frontier” about the Aniridia-Net COST Action and the latest news about aniridia treatment and research.

The webinar started with a welcome speech by Ivana Kildsgaard, chairperson of the Swedish Aniridia Association and Aniridia Europe’s Board member.
Ivana reminded viewers that the main goal of Aniridia Europe is to raise awareness about aniridia, disseminate the latest knowledge and developments, engage scientists and the medical community, get professionals to work together to improve the quality of life of aniridia patients.

As part of the webinar, participants watched a short video about aniridia, developed as part of the COST Aniridia-Net project.

Afterwards, we had a discussion with Prof. Neil Lagali from the University of Linköping, Sweden, whose primary focus is cornea research and Prof. Dr Claus Cursiefen from the University of Cologne, Germany a cornea specialist and ophthalmologist.

Prof. Neil Lagali shared with us that, in the beginning, there were only 60 participants in this Action; now, over 200 members and 30 countries are represented. Aniridia-Net is currently the biggest project focusing on aniridia in the world.
Aniridia-Net focuses on bringing a critical mass of researchers, physicians, patient organizations, and other interested parties together to work on improving the lives of those living with aniridia.
Prof. Dr Claus Cursiefen added that the COST Action is probably the longest-running funding tool in the European Union.
One of the action’s most significant advantages is that it’s an open form of collaboration. It helps to train the next generation of physicians and researchers and bring new ideas and projects, but additional funding is needed to make it happen.
It is a great tool, but it also has its challenges: “It’s like a seeding ground on which other things can grow. In the future” Prof. Dr Claus Cursiefen said.

There are several working groups in the Action.
One of them focuses on best practices in the treatment of keratopathy. It’s difficult to define best practices for rare diseases, as aniridia, because of the limited published evidence. But Prof. Dr Claus Cursiefen confirms that the work is progressing.
For the moment, the key message about cornea transplantation is that it should be done only as a last resort option.

Another working group of Aniridia-Net focuses on developing Clinical consensus on recommendations for Aniridia examination and treatment methods. This work is led by Prof. Dominique Bremond-Gignac, France, and is engaging a large group of specialists, professionals and even representatives from Aniridia Europe.

Another group of Aniridia-Net is working on regenerative methods.
Limbal stem-cell transplantations are a crucial tool but often have poor outcome in aniridia. There is a very promising clinical trial in Germany, where a particular form of stem-cells are transplanted.
Also, the COST Action with Aniridia Europe’s help is currently applying for a clinical trial that aims to develop treatments that will stop the vessel growth. This study is a perfect example of how the interaction between patient organizations and researchers is essential.
A new keratopathy grading system is being developed. This grading system will help doctors assess the keratopathy stage a patient is in and what treatment is best for them. Genotype and phenotype studies are vital to creating this grading system. There’s still a long way to go, but the research is promising.

At the end of the webinar, the professors answered some questions.
Participants asked Prof. Dr Claus Cursiefen how to prevent the keratopathy progress and how to take care of the ocular surface. He recommended using lubricant eye drops without preservatives and combining lubricant drops that place different tear film layers, for example, a water layer (hyaluronic acid) and a lipid layer. For the evening, Prof. Dr Cursiefen recommended using an ointment to keep the eyes lubricated through the night.
In the long term, it’s useful to think about how to reduce inflammatory changes. In summary, there are three approaches: supporting the tear film stability, inflammatory therapy and approaches to strengthen the corneal nerves.
Contact lenses can help calm things down on a short time basis, if necessary, but Prof. Dr Claus Cursiefen wouldn’t recommend their use on a long-term basis.

There was also a discussion about the risks of Covid-19 for aniridia patients. Prof. Dr Claus Cursiefen mentioned there was some risk of mask-associated dry eye disease. When people wear masks for long periods, it can aggravate dry eye disease and increase the risk of infections because bacteria is blown continuously from the nose to the ocular surface. So aniridia patients should use more aggressive lubrication. Increased screen time (use of computers and tablets) could also be another aggravating factor in dry eye disease.

Prof. Neil Lagali shared his thoughts on the future of Aniridia knowledge. In 10 years, he would like to see Aniridia as globally well-known medical condition.
Young researchers and physicians should have an excellent knowledge of aniridia, and there should be approved therapies for it.

Aniridia-Net next steps were highlighted at the end of the webinar:
– creating Clinical Consensus statement;
– advance the work on register studies (combining the evidence based data on Aniridia in Europe) and review articles, to extend important recommendations, conclusions, and suggestive new research areas;
– and, of course, disseminate news about aniridia.

The recording of the webinar is available on Aniridia Europe YouTube channel.