RP17

Disease Category: autosomal dominant

Patient Population: unknown

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

IN THE NEWS

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

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.

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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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Suzanne E. de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uira S. Melo, Julio C. Corral-Serrano, Timo Mulders, Michalis Georgiou, Carlo Rivolta, Nikolas Pontikos, Gavin Arno, Lisa Roberts, Jacquie Greenberg, Silvia Albert, Christian Gilissen, Marco Aben, George Rebello, Simon Mead, F. Lucy Raymond, Jordi Corominas, Claire E.L. Smith, Hannie Kremer, Susan Downes, Graeme C. Black, Andrew R. Webster, Chris F. Inglehearn, L. Ingeborgh van den Born, Robert K. Koenekoop, Michel Michaelides, Raj S. Ramesar, Carel B. Hoyng, Stefan Mundlos, Musa M. Mhlanga, Frans P.M. Cremers, Michael E. Cheetham, Susanne Roosing, and Alison J. Hardcastle, American Journal of Human Genetics, Vol 107, 802–814, 5 Nov 2020.

https://www.cell.com/ajhg/pdfExtended/S0002-9297(20)30322-0

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Update

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Update

After thirty years of research, the genetic defect that causes the eye disease retinitis pigmentosa type 17 (RP17) has finally been discovered. Molecular geneticists Susanne Roosing and Suzanne de Bruijn located the gene defect by examining the genetic material (DNA) of a large Dutch family that had been forwarded by physicians from the Department of Ophthalmology.

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