Breakthrough in Inherited Blindness Research
Researchers at Radboudumc have identified a new genetic cause of retinitis pigmentosa (RP), an eye disease that affects 1 in 5,000 people and can lead to tunnel vision or complete blindness.
They discovered a variant in the RNU4‑2 gene, a non‑coding RNA gene crucial for processing genetic information. Starting with one American family, the team—working with international partners—ultimately provided answers for 153 patients from 67 families worldwide.
The findings highlight the major role of non‑coding DNA in hereditary retinal diseases, opening new avenues for diagnosis, counseling, and future research.
A significant step forward in understanding inherited blindness and expanding the field of genetics.
The research is published in Nature Genetics: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa – Mathieu Quinodoz*, Kim Rodenburg*, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn […], Frans P. M. Cremers, Winston Lee, Jamie M. Ellingford, David Stanek, Susanne Roosing#, Carlo Rivolta#. DOI: 10.1038/s41588-025-02451-4.
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Published in Nature Genetics: Researchers at Radboudumc have discovered a new genetic cause of retinitis pigmentosa (RP) — an eye disease affecting about 1 in 5,000 people worldwide, often leading to tunnel vision and eventually complete blindness.
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