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

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

The RP17 form of [RP] is caused by an arginine to tryptophan (R14W) mutation in the signal sequence of carbonic anhydrase IV (CAIV).

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

To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa

Novel mutation identified in CA4 that provides further evidence that impaired pH regulation may underlie photoreceptor degeneration in RP17.

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