Retinitis pigmentosa

Common Name(s)

Retinitis pigmentosa

Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to breakdown and die, eventually resulting in vision loss. The first sign of RP is usually night blindness. As the condition progresses, affected individuals also develop tunnel vision. Sometimes RP occurs by itself (isolated RP), and other times it occurs with additional signs and symptoms (syndromic RP). Mutations in at least 50 genes have been found to cause RP. There is no cure for RP, however, there are a few treatment options to slow down the progression of the disease. These options include light avoidance, use of low-vision aids, and vitamin A supplementation.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Retinitis pigmentosa" for support, advocacy or research.

Bardet Biedl Syndrome Family Association

Our Mission: Improve the lives of families affected by BBS through information, support and by advancing research and therapy Our Vision: Effective support, therapy, and treatment for all people affected by Bardet Biedl Syndrome

Last Updated: 14 Mar 2013

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Coalition for Usher Syndrome Research

To support Usher syndrome research by organizing and building and Usher syndrome community.

Last Updated: 11 Dec 2012

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

Last Updated: 3 Nov 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Retinitis pigmentosa" for support, advocacy or research.

Bardet Biedl Syndrome Family Association

Our Mission: Improve the lives of families affected by BBS through information, support and by advancing research and therapy Our Vision: Effective support, therapy, and treatment for all people affected by Bardet Biedl Syndrome

http://www.bardetbiedl.org/

Last Updated: 14 Mar 2013

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Coalition for Usher Syndrome Research

To support Usher syndrome research by organizing and building and Usher syndrome community.

http://www.usher-syndrome.org

Last Updated: 11 Dec 2012

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Retinitis pigmentosa" returned 792 free, full-text research articles on human participants. First 3 results:

Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa.
 

Author(s): Jesper Bregnhøj, Sermed Al-Hamdani, Birgit Sander, Michael Larsen, Patrik Schatz

Journal:

 

To report changes in the tapetal-like reflex in a female carrier of RPGR ORF15 c.3395delA X-linked retinitis pigmentosa (XLRP) between examinations at 16 and 22 years of age, and to report the observation that the tapetal-like reflex faded due to exposure to daylight and reappeared ...

Last Updated: 24 Jun 2014

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Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
 

Author(s): Paola Benaglio, Patricia Fernandez San Jose, Almudena Avila-Fernandez, Giulia Ascari, Shyana Harper, Gaël Manes, Carmen Ayuso, Christian Hamel, Eliot L Berson, Carlo Rivolta

Journal:

 

Mutations in genes encoding proteins from the tri-snRNP complex of the spliceosome account for more than 12% of cases of autosomal dominant retinitis pigmentosa (adRP). Although the exact mechanism by which splicing factor defects trigger photoreceptor death is not completely clear, ...

Last Updated: 24 Jun 2014

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Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
 

Author(s): Xinyuan Pan, Xue Chen, Xiaoxing Liu, Xiang Gao, Xiaoli Kang, Qihua Xu, Xuejuan Chen, Kanxing Zhao, Xiumei Zhang, Qiaomei Chu, Xiuying Wang, Chen Zhao

Journal:

 

Seven genes involved in precursor mRNA (pre-mRNA) splicing have been implicated in autosomal dominant retinitis pigmentosa (adRP). We sought to detect mutations in all seven genes in Chinese families with RP, to characterize the relevant phenotypes, and to evaluate the prevalence ...

Last Updated: 18 Jun 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Retinitis pigmentosa" returned 27 free, full-text review articles on human participants. First 3 results:

Genes and mutations causing retinitis pigmentosa.
 

Author(s): S P Daiger, L S Sullivan, S J Bowne

Journal: Clin. Genet.. 2013 Aug;84(2):132-41.

 

Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences. Progress in finding treatments is dependent on determining the genes and mutations causing these diseases, which ...

Last Updated: 10 Jul 2013

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Gene therapy in animal models of autosomal dominant retinitis pigmentosa.
 

Author(s): Brian Rossmiller, Haoyu Mao, Alfred S Lewin

Journal: Mol. Vis.. 2012 ;18():2479-96.

 

Gene therapy for dominantly inherited genetic disease is more difficult than gene-based therapy for recessive disorders, which can be treated with gene supplementation. Treatment of dominant disease may require gene supplementation partnered with suppression of the expression of the ...

Last Updated: 18 Oct 2012

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Current mutation discovery approaches in Retinitis Pigmentosa.
 

Author(s): Ander Anasagasti, Cristina Irigoyen, Olatz Barandika, Adolfo López de Munain, Javier Ruiz-Ederra

Journal: Vision Res.. 2012 Dec;75():117-29.

 

With a worldwide prevalence of about 1 in 3500-5000 individuals, Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration. It is an extremely heterogeneous group of genetically determined retinal diseases leading to progressive loss of vision due to impairment ...

Last Updated: 4 Dec 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum
 

Status: Not yet recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 18 Sep 2014

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Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
 

Status: Recruiting

Condition Summary: Usher Syndrome; Retinitis Pigmentosa

 

Last Updated: 24 Jun 2014

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Last Updated: 23 Jun 2014

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