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Disease Category: autosomal dominant

Patient Population: Unknown

Known Clinical Trials: None known

Treatment Options: 

Strategies to Preserve Eye Health: 

Institution(s) Conducting Research: Unknown


Image by Amanda Dalbjörn



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 (adRP). Genetic linkage analysis was performed on the known genetic loci for adRP with a panel of polymorphic markers, and then all exons including exon-intron boundary, 5oUTR and 3oUTR of the candidate gene were sequenced directly. Two-point LOD scores were negative with all markers tested except D17S701 (Zmax=2.107, theta=0) and D17S1604 (Zmax=1.806, theta=0).

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

Bernardo V Alvarez, Eranga N Vithana, Zhenglin Yang, Adrian H Koh, Kit Yeung, Victor Yong, Haley J Shandro, Yali Chen, Prasanna Kolatkar, Paaventhan Palasingam, Kang Zhang, Tin Aung, Joseph R Casey | Investigative Ophthalmology & Visual Science | Aug 2007 | Vol.48 | 3459-3468 |

The autosomal dominant retinitis pigmentosa (adRP) gene on chromosome 17, region q22 (RP17), was recently identified as a glycosylphosphatidylinositol membrane-anchored zinc metalloenzyme (protein CAIV), highly expressed in the choriocapillaris of the eye and undetectable in the retina. Only two missense mutations have thus far been identified in the gene CA4. Functional analysis of these mutations demonstrated that retinal disease may result from perturbation of pH homeostasis in the outer retina, . . .

Cell-specific differences in the processing of the R14W CA4 mutant associated with retinitis pigmentosa 17 (RP17)

Aisha Pandor, Rajkumar Ramesar, Sharon Prince | J Cell Biochem​ | 2010 Oct 15 | Vol. 111, Issue 3 | 735-41 | doi: 10.1002/jcb.22759

Retinitis pigmentosa is a highly heterogeneous form of inherited blindness which affects more than 1.3 million individuals worldwide. The RP17 form of the disease is caused by an arginine to tryptophan (R14W) mutation in the signal sequence of carbonic anhydrase IV (CAIV). While CAIV is expressed in the choriocapillaries of the eye and renal epithelium, the R14W mutation results in an exclusively ocular phenotype in affected individuals.

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 | doi: 10.1073/pnas.0404764101

Carbonic anhydrase (CA) IV is a glycosylphosphotidylinositol-anchored enzyme highly expressed on the plasma face of microcapillaries and especially strongly expressed in the choriocapillaris of the human eye. In collaboration with scientists at the University of Cape Town (Rondebosch, South Africa), we recently showed that the R14W mutation in the signal sequence of CA IV, which they identified in patients with the retinitis pigmentosa (RP) 17 form of autosomal dominant RP, results in accumulation of unfolded protein in the endoplasmic reticulum (ER), leading to ER stress, the unfolded protein response, and apoptosis in a large fraction of transfected COS-7 cells expressing mutant, but not wild-type, CA IV.

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