A better outlook

Why does Lena have good vision, unlike her twin sister Emma? And why does Luca, their older brother, also have a congenital eye disease? Ophthalmologist Christina Gerth-Kahlert at University Hospital Zurich is working with human geneticist Wolfgang Berger at the University of Zurich to help the parents of Lena, Emma and Luca. The researchers want to find out what genetic changes are causing the eye diseases in the Stalder* family and whether they are hereditary.

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“Genetic mutations exhibit an infinite number of variations,” explains Christina Gerth-Kahlert. “When we have more precise information about what mutation causes congenital cataracts, for example, we can take a more targeted approach to treating the disease and provide parents with more accurate information about the prognosis.” It will also be possible to determine whether other organs are affected as well. “In addition to the eyes, some genetic mutations also affect major organs such as the brain, heart, and kidneys.”

In children, it is especially important to identify the cause of a malformation of the eye or conditions like cataracts at a very early stage and provide the best possible treatment from the outset. “Children can see right after they’re born, but they first have to learn how to process what they see in their brains,” explains the ophthalmologist, who specializes in working with children. “The better they can see, the better they can develop.”

Thanks to the support of the Iten Kohaut Foundation, ophthalmologist Christina Gerth-Kahlert and human geneticist Wolfgang Berger spent two years conducting clinical investigations as well as DNA sequence analyses in children with congenital diseases and abnormalities of the anterior region of the eye. This enabled them to further develop the treatment strategies for genetic eye diseases. Their approach will now be made available to even more children and families – and help children like Emma and Luca more effectively.

80% financed

Iten Kohaut Foundation