A message from Prof. Barbara Käsmann-Kellner, chair of Aniridia Europe’s Scientific Committee

This year the Rare Disease Day focuses on research and its slogan is: ‘With research, possibilities are limitless‘ (see http://www.rarediseaseday.org).

This is a very positive slogan indeed, and with Aniridia, we sure have seen developments within the last few years which would have been unimaginable 10 years ago.
These are, for example, active modifications of special genetic mutations of the PAX6 gene, or progress in research into limbal stem cell insufficiency leading to corneal scar formations such like transplantation of limbal stem cells or finding other stem cell populations which could serve as a basis to regenerate a deficient corneal surface.

Having said this, I would, however, like to add a little bit of skepticism to the slogan part of “possibilities are limitless”. Aniridia not only is a genetic condition but it is a condition where many pathological signs are already present at birth – therefore, there are limits to the possibilities of treating aniridia. This is a significant difference to other rare diseases like metabolic defects or genetic diseases which develop slowly during lifetime (a good example here for example is retinitis pigmentosa, usually starting in youth and then leading to progressive low vision and blindness). In rare ocular diseases starting later in life the visual anatomy is normal at birth, and this includes the eye and the visual tracts into the brain. People affected by late-onset genetic eye disease will have more chances for “limitless possibilities” as their brains and their infantile visual developement have been normal.

In Aniridia, however, there is hardly any chance to ever develop full visual acuity as the brain suffers from reduced visual input from birth on – and especially the first two years are very important for a full development of the visual tracts and the visual cortex – the latter being the area in our brain where visual inputs are translated into visual information we can understand and use.

On the other hand, research is ever so important for Aniridia as persons with Aniridia are constantly threatened by complications leading to a decline of vision and even possibly to blindness. The most important dangers for further loss of vision in Aniridia are glaucoma with optic neuropathy, corneal opacifications and the risk of intraocular surgery (Aniridia Fibrosis Syndrome).
Here, research for Aniridia is mandatory and in my opinion we could really celebrate a great success if research one day leads to the possibility that aniridic complications can be successfully treated or even – much better – prevented from arising at all. A time when Aniridia patients can be sure to keep their “infant vision” – keep a clear cornea, a clear lens and be glaucoma-free – would be such a progress for all affected people indeed.

Research for Aniridia and in Aniridia can help to understand the nature of the typical aniridia complications. It can lead to the development of new innovative treatments and perhaps to preventive measurements to keep complications of Aniridia at bay.

Research is the key to improve the situations of persons with aniridia. This is why Aniridia Europe has a Scientific Committee and all members of the Committee are devoted to find possible solutions to tackle or prevent complications.

Professor Käsmann-Kellner at the 3rd European Conference on Aniridia in 2016

In my opinion, work is easier if it is not approached with illusory expectations. As a member of AE and as the medical advisor for Aniridie-WAGR Germany I see many patients with Aniridia and I have come to realize that an-iridia (the lack of the iris) is not the major problem, but that the problems in PAX6 related aniridia (or PAX6 Syndrome) lie in the complications possibly leading to blindness. Reading the slogan “With research, possibilities are limitless” would make me wary and hesitant persuing my own research efforts because “limitless” is just too big a goal to be realistic.

My hope for all Aniridia persons is that research will enable us one time to treat complications effectively and without evoking other complications, and – perhaps – even will later enable us to prevent complications.

Therefore, I totally agree with Rare Disease Day that research is the most important key in improving our rare genetic eye disase.

Let us all help that research will lead to a time where Aniridia is not a possibly blinding disease anymore!

Prof. Dr. Barbara Käsmann-Kellner
Chair, Scientific Committee of Aniridia Europe
Medical Advisor to Aniridie-WAGR Germany
German Aniridia Center
University of Saarland
Homburg (Saar)