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Forschungsinstitut fuer Augenheilkunde
INSTITUTE FOR OPHTHALMIC RESEARCH
FORSCHUNGSINSTITUT FÜR AUGENHEILKUNDE

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Swimming with Achromatopsia

With the highly promising young swimmer Kimi Brückner

As we write this article, the 2024 Paralympic Games are underway in Paris. First held in Rome in 1960, the Paralympics have evolved into the premier sporting event for athletes with disabilities, offering a stage for those with physical, visual, or intellectual impairments to demonstrate their abilities.

Over the years, the Paralympics have grown in significance, emerging as a powerful symbol of equality and inclusion. More than just a competition, they embody courage and determination, inspiring millions of people across the globe.

Kimi Brückner, now 14 years old, is one of the top para-swimmers in Germany. At the recent German Short Course Championships in Düsseldorf, he won three gold medals and one silver. The young swimmer from Bayreuth competes with achromatopsia, a visual impairment that prevents him from seeing colors and severely limits his vision. His achievements are all the more impressive because of this. 

On this video above, he shares with Dirk Feustel what this challenge means to him and how he manages it.

At the Institute of Ophthalmic Research, we are dedicated to supporting patients with achromatopsia like Kimi. Professor Bernd Wissinger's laboratory is investigating the molecular genetic basis of achromatopsia in individual patients and families, as well as at a population level, in order to help these patients providing a.o. a Reference Center for a better clinical and genetical diagnosis. 

Moreover, the RD-Cure project has been launched in order to develop a gene replacement therapy for patients with mutations in the CNGA3 gene, which is responsible for a form of achromatopsia. During this project the first-in-man Phase I/II clinical safety trial using gene augmentation in CNGA3-associated achromatopsia has been conducted.

Would you like to learn more about achromatopsia?  
Visit the website www.achromatopsie.de from the Achromatopsie Selbsthilfegruppe e.V.

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