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
top of page
Search
- 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.
All Posts
bottom of page