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.

Usher Syndrome Coalition

The Usher Syndrome Coalition's mission is to raise awareness and accelerate research for the most common cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher syndrome.

Last Updated: 31 Oct 2014

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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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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.

Usher Syndrome Coalition

The Usher Syndrome Coalition's mission is to raise awareness and accelerate research for the most common cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher syndrome.

http://www.usher-syndrome.org

Last Updated: 31 Oct 2014

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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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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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General Resources

Usher Syndrome Registry

The Usher Syndrome Registry bridges the gap between researchers and patients. Building the registry is a fundamental step towards quickening the pace of discovery and ensuring access to patients as more clinical trials are launched.

Updated 31 Oct 2014

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Usher Syndrome Conference Calls

The Coalition holds monthly conference calls in which leading experts talk about the latest news and research impacting families with Usher Syndrome. Live captioning is provided. Transcripts and past presentations can be found on our website.

Updated 31 Oct 2014

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Blogs

Usher Syndrome Blog

The Usher Syndrome Blog touches on a lot of issues that Usher families face.

Updated 31 Oct 2014

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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 637 free, full-text research articles on human participants. First 3 results:

A comparison of progressive loss of the ellipsoid zone (EZ) band in autosomal dominant and x-linked retinitis pigmentosa.
 

Author(s): Cindy X Cai, Kirsten G Locke, Rithambara Ramachandran, David G Birch, Donald C Hood

Journal:

 

In patients with retinitis pigmentosa (RP), the inner segment ellipsoid zone (EZ; also known as the inner segment/outer segment [IS/OS] border) is a marker of the usable visual field at a given point in time and of the progression of the disease over time. Here we compare the change ...

Last Updated: 21 Nov 2014

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Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration.
 

Author(s): José Luiz Pedroso, Priscilla Proveti, Luiz Fernando Teixeira, Juliana Maria Ferraz Sallum, Orlando G P Barsottini

Journal: Arq Neuropsiquiatr. 2014 Oct;72(10):816-7.

 

Last Updated: 23 Oct 2014

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A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
 

Author(s): Feng Wang, Yandong Wang, Bin Zhang, Li Zhao, Vera Lyubasyuk, Keqing Wang, Mingchu Xu, Yumei Li, Frances Wu, Cindy Wen, Paul S Bernstein, Danni Lin, Susanna Zhu, Hui Wang, Kang Zhang, Rui Chen

Journal:

 

Retinitis pigmentosa (RP) is a genetically heterogeneous disease with over 60 causative genes known to date. Nevertheless, approximately 40% of RP cases remain genetically unsolved, suggesting that many novel disease-causing genes are yet to be identified. In this study, we aimed ...

Last Updated: 8 Nov 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 25 free, full-text review articles on human participants. First 3 results:

Vitamin A and fish oils for retinitis pigmentosa.
 

Author(s): Sobharani Rayapudi, Stephen G Schwartz, Xue Wang, Pamela Chavis

Journal:

 

Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration of retinal photoreceptors. It results in severe visual loss that may lead to legal blindness. Symptoms may become manifest during childhood or adulthood, and include poor ...

Last Updated: 2 Jan 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Usher Syndrome; Retinitis Pigmentosa

 

Last Updated: 4 Feb 2015

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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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Last Updated: 31 Mar 2015

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