This eye condition affects about one in 5,000 people worldwide, causing “tunnel vision” and often leads to legal blindness. The discovery provides clarity for dozens of families globally and opens new possibilities for diagnostics and counseling in hereditary conditions.

Retinitis pigmentosa (RP) is a disorder in which the rod and cone cells in the retina gradually die. Affected individuals first experience night blindness, followed by tunnel vision. Some eventually lose their sight completely.

Although more than a hundred genes are known to cause RP, in 30 to 50% of patients the genetic cause remains unresolved, even after extensive DNA testing. Researchers at Radboudumc have now solved part of this puzzle.