New genetic cause for vision impairment and blindness discovered
For over 30 years, geneticists at Radboudumc & the Donders Institute searched for the cause of vision impairment within a large Dutch family
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- Mar 3, 2009
Pathogenesis of RP associated with apoptosis-inducing mutations in CA4
Apoptosis induced by the CA4 mutants could be prevented, at least partially, by treating the cells with dorzolamide, a CA inhibitor.
- Nov 24, 2004
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration
We performed genetic studies in several RP17 families with rod–cone dystrophy and identified several mutations in the CA4 gene.