Retinitis pigmentosa

Common Name(s)

Retinitis pigmentosa

Retinitis pigmentosa (RP) is a genetic eye condition that leads to vision loss. RP is caused by the loss of light receptor cells (photoreceptors) that are located in the back of the eye (retina). The photoreceptors, which send signals from the eye to the brain, are made up of rods and cones. The rods help with vision in lower light as well as side (peripheral) vision. The cones help with vision in bright light. In RP, the rods start to go away first, which causes a person to have poor night vision, which usually starts in childhood. As time goes on, a person starts to have poor peripheral vision, followed by vision only in the center (tunnel vision) and then total blindness. The progression of these symptoms usually takes several years.

RP is caused by a change (mutation) in one of many different genes and can be inherited in several different ways, including autosomal dominant, autosomal recessive, and X-linked recessive, depending on which gene has the mutation. RP can be the only health issue a person has (isolated RP) or it can be part of a genetic syndrome that causes many different health problems (syndromic RP). There are over 60 genes that are known to cause isolated RP. Common syndromic forms of RP include Usher syndrome and Bardet-Biedl syndrome.

RP can be diagnosed by vision tests and an eye exam that show poor vision, rod dysfunction, and loss of photoreceptor function. There is not a cure for RP, but there are some medications available that may help slow the progress of the disease. If your child has been diagnosed with RP, talk to their doctor about current treatment options. Meeting with a genetic counselor may be helpful to determine how RP is inherited in your family. Support groups may provide additional information and connect you with others affected by RP.

Source: Advocacy organizations associated with the condition.

 

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?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Response to Re: A pilot study of an acupuncture protocol to improve visual function in retinitis pigmentosa patients.
 

Author(s): Ava K Bittner, Andy Rosenfarb, Jeff Gould, Gislin Dagnelie

Journal: Clin Exp Optom. 2015 Jan;98(1):100.

 

Last Updated: 30 Dec 2014

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Correlation of outer nuclear layer thickness with cone density values in patients with retinitis pigmentosa and healthy subjects.
 

Author(s): Moreno Menghini, Brandon J Lujan, Shiri Zayit-Soudry, Reema Syed, Travis C Porco, Kristine Bayabo, Joseph Carroll, Austin Roorda, Jacque L Duncan

Journal:

 

We studied the correlation between outer nuclear layer (ONL) thickness and cone density in normal eyes and eyes with retinitis pigmentosa (RP).

Last Updated: 16 Jan 2015

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A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.
 

Author(s): Feng Wang, Huajin Li, Mingchu Xu, Hui Li, Li Zhao, Lizhu Yang, Jacques E Zaneveld, Keqing Wang, Yumei Li, Ruifang Sui, Rui Chen

Journal:

 

Mutations in the same gene can lead to different clinical phenotypes. In this study, we aim to identify novel genotype-phenotype correlations and novel disease genes by analyzing an unsolved autosomal recessive retinitis pigmentosa (ARRP) Han Chinese family.

Last Updated: 10 Jan 2015

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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:

Personalized therapeutic strategies for patients with retinitis pigmentosa.
 

Author(s): Andrew Zheng, Yao Li, Stephen H Tsang

Journal: Expert Opin Biol Ther. 2015 Mar;15(3):391-402.

 

Retinitis pigmentosa (RP) encompasses many different hereditary retinal degenerations that are caused by a vast array of different gene mutations and have highly variable disease presentations and severities. This heterogeneity poses a significant therapeutic challenge, although an ...

Last Updated: 17 Feb 2015

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Recent advances of stem cell therapy for retinitis pigmentosa.
 

Author(s): Yuxi He, Yan Zhang, Xin Liu, Emma Ghazaryan, Ying Li, Jianan Xie, Guanfang Su

Journal:

 

Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive loss of photoreceptors and eventually leads to retina degeneration and atrophy. Until now, the exact pathogenesis and etiology of this disease has not been clear, and many approaches for ...

Last Updated: 21 Aug 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 17 Aug 2015

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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: 1 Jun 2015

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Last Updated: 31 Mar 2015

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