RP17

Nov 5, 2020

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Molecular geneticists Susanne Roosing and Suzanne de Bruijn located the genetic defect that causes the eye disease retinitis pigmentosa.

Oct 7, 2020

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

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.

WHAT WE HOPE TO UNDERSTAND