3rd European Patient Day on Achromatopsia and Blue Cone Monochromacy
The Tübingen Eye Clinic, in partnership with Achromatopsie Selbsthilfe e.V. and the BCM Family Foundation, organized the 3rd European Patient Day on Achromatopsia and Blue Cone Monochromacy on September 16.
This day was highly informative for the 140 patients and their families. In addition to presentations by well-known researchers, such as Professor Zrenner, Professor Katarina Stingl, Dr. Susanne Kohl, and Dr. Tobias Peters, the head of the Study Center (STZ) and project coordinator, there were also lectures by Professor Jean Bennett and Miguel Naiva. After the lunch break, there was a panel discussion involving those affected, led by Dr. Tobias Peters, with moderation by Professor Barbara Wilhelm and Hans-Werner Merkelbach.
Furthermore, during this event the results have been shown from the "Colour Bridge" gene therapy study conducted at the Eye Clinic. A hybrid format allowed additional affected individuals and interested parties to participate online.
Achromatopsia (ACHM) is a severe, rare, genetically inherited eye disorder with significant consequences for vision. Key symptoms include extremely poor visual acuity, severe light sensitivity in normal daylight, and complete color blindness, often accompanied by eye movement disorders.
In Germany, estimated 3,000 patients are affected, and there are approximately 17,000 patients throughout the entire EU. To date, five ACHM genes have been identified, which collectively account for approximately 80% of initial clinical diagnoses of ACHM. The most common causes of ACHM in the Western population are mutations in the CNGB3 and CNGA3 genes.
In Tübingen, research is being conducted in the gene therapy study "Colour Bridge" to treat affected children and adults. This study is supported by the Federal Ministry of Education and Research (BMBF) for finding an effective treatment for CNGA3-associated Achromatopsia.
Since the 1990s, the Tübingen Eye Clinic has been building the world's largest database of genetically characterized ACHM patients, with over 800 independent families currently included.
Picture from the left Herr Dr. Tobias Peters, Frau Prof. Barbara Wilhelm, Hans-Werner Merkelbach
Links:
Achromatopsie Selbsthilfe e.V.: https://www.achromatopsie.de/
BCM Family Foundation: https://www.blueconemonochromacy.org
