Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.

To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant RP.

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.

Abstract Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal...

Giuseppe Bonapace, Abdul Waheed, Gul N Shah, William S Sly |  Proc National Academy Science  | 2004 Aug 17 | Vol. 101, Issue 33 | 12300-5...