CA4

BRIEF DESCRIPTION

CA4 retinitis pigmentosa is a type of retinitis pigmentosa (RP) caused by a mutation in the carbonic anhydrase IV (CA4) gene, also known as the RP17 locus. A mutation in the CA4 gene can cause RP. The CA4 gene encodes a protein that's expressed in the choriocapillaris of the eye. One mutation identified in a patient with RP is R69H, which impairs the pH recovery of the retina.

As mentioned many times on this site, RP is a group of inherited eye diseases that cause the retina's light-sensing cells to gradually deteriorate, leading to vision loss.

Disease Category: autosomal dominant

Patient Population: Unknown

Known Clinical Trials: None known

Check clinicaltrials.gov for updates

Treatment Options:

Strategies to Preserve Eye Health:

Institution(s) Conducting Research: Unknown

A FACE OF RP

tbd

IN THE NEWS

Apr 21, 2016

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

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

Oct 14, 2010

Cell-specific differences in the processing of the R14W CA4 mutant associated with retinitis pigmentosa 17

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

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.

Dec 24, 2007

Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa

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

Aug 30, 2007

Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa

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

Jan 14, 2005

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration

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

Aug 17, 2004

Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17

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