RP17

Disease Category: autosomal dominant

Patient Population: 300+

Known Clinical Trials: None known

Check clinicaltrials.gov for details

Treatment Options: none known

Strategies to Preserve Eye Health:

Institution(s) Conducting Research:

Radboud UMC & Donders Institute

A FACE OF RP

TBD

tbd

BRIEF DESCRIPTION

Retinitis pigmentosa type 17 (RP17) is a hereditary eye disease that causes gradual vision loss. RP17 is a form of dominantly inherited retinitis pigmentosa caused by pathogenic structural abnormalities affecting the chr17q22 region. The genetic cause of RP17 was only recently discovered, yet already over 300 affected individuals have been genetically diagnosed with this disease.

Symptoms include decreased visual acuity, visual field constriction, and night blindness. Many people with RP17 retain central vision until their sixth or seventh decade of life. RP17 is caused by a DNA duplication on chromosome 17q22. The duplication contains the genetic code for several genes. RP17 can onset as early as age 15, but the mean age of onset is between 20 and 30 years. At present, there's no treatment for RP, but low vision aids, rehabilitation programs, and vitamins and supplements can help some types of RP.

RP doesn't follow a set schedule of progression because there are many different genes that can be involved. Different types of RP progress differently in different people.

IN THE NEWS

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

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.

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.

ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES

PRCD R17C Mutation Associated with Retinitis Pigmentosa in Humans Affects Protein Stability and Localization

Gabrielle Hamner, Joseph Murphy, Emily Sechrest, Sree Motipally, Saravanan Kolandaivelu, ARVO Annual Meeting Abstract, June 2020

Our studies demonstrate that an R17C mutation in PRCD does not affect membrane association or palmitoylation. However, the mutation does affect PRCD protein stability and trafficking to the photoreceptor OS, which may be why this mutation is associated with RP in human patients.

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Linkage analysis and comparative mapping of canine progressive rod–cone degeneration (PRCD) establishes potential locus homology with retinitis pigmentosa (RP17) in humans

Gregory M. Acland, Kunal Ray, Cathryn S. Mellersh, Weikuan Gu, Amelia A. Langston, Jasper Rine, Elaine A. Ostrander, Gustavo D. Aguirre, Proceedings of National Academy of Sciences, Vol 95 (6), 3048-3053, 17 March 1998.

https://doi.org/10.1073/pnas.95.6.3048

Progressive rod–cone degeneration (prcd) is the most widespread hereditary retinal disease leading to blindness in dogs and phenotypically is the canine counterpart of retinitis pigmentosa (RP) in humans. In previous efforts to identify the genetic locus for prcd, the canine homologs for many of the genes causally associated with RP in humans, such as RHO, PDE6B, and . . .

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RETINITIS PIGMENTOSA: causes of peripheral and night vision loss

Shiley Eye Institute, University of California, San Diego. Website: https://shileyeye.ucsd.edu/eye-conditions/hereditary-genetic-disorders/rp

We are focusing on identifying genes causing autosomal dominant form of RP and elucidating underlying pathogenic mechanisms. We show that missense mutations in CAIV , a gene not expressed in retina including photoreceptors or RPE, are responsible for an autosomal dominant form of retinitis pigmentosa (RP17).

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