For over 30 years, geneticists at Radboudumc & the Donders Institute searched for the cause of vision impairment within a large Dutch family

Apoptosis induced by the CA4 mutants could be prevented, at least partially, by treating the cells with dorzolamide, a CA inhibitor.

We performed genetic studies in several RP17 families with rod–cone dystrophy and identified several mutations in the CA4 gene.