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: 22 Sep 2015

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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.

http://www.blindness.org

Last Updated: 22 Sep 2015

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

Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
 

Author(s): Wissam Abdulridha-Aboud, Ulrika Kjellström, Sten Andréasson, Vesna Ponjavic

Journal:

 

To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function.

Last Updated: 23 May 2016

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A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
 

Author(s): Worapoj Jinda, Naravat Poungvarin, Todd D Taylor, Yutaka Suzuki, Wanna Thongnoppakhun, Chanin Limwongse, Patcharee Lertrit, Prapat Suriyaphol, La-Ongsri Atchaneeyasakul

Journal:

 

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations characterized by progressive loss of photoreceptor cells and RPE functions. More than 70 causative genes are known to be responsible for RP. This study aimed to identify ...

Last Updated: 28 Apr 2016

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Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
 

Author(s): Meng Gao, Su Zhang, Chunjie Liu, Yayun Qin, Stephen Archacki, Ling Jin, Yong Wang, Fei Liu, Jiaxiang Chen, Ying Liu, Jiuxiang Wang, Mi Huang, Shengjie Liao, Zhaohui Tang, An Yuan Guo, Fagang Jiang, Mugen Liu

Journal:

 

To investigate the genetic basis and its relationship to the clinical manifestations in a four generation Chinese family with autosomal dominant retinitis pigmentosa.

Last Updated: 15 Apr 2016

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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 31 free, full-text review articles on human participants. First 3 results:

Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa.
 

Author(s): David A Parfitt, Michael E Cheetham

Journal: Adv. Exp. Med. Biol.. 2016 ;854():479-84.

 

Mutations in rhodopsin are one of the most common causes of retinitis pigmentosa (RP). Misfolding of rhodopsin can result in disruptions in cellular protein homeostasis, or proteostasis. There is currently no available treatment for RP. In this review, we discuss the different approaches ...

Last Updated: 2 Oct 2015

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Intravitreal aflibercept (Eylea) injection for cystoid macular edema secondary to retinitis pigmentosa - a first case report and short review of the literature.
 

Author(s): Giannis-Aimant Moustafa, Marilita M Moschos

Journal:

 

Cystoid macular edema (CME) in retinitis pigmentosa (RP) has been managed in several ways as documented in the literature, with little success, though. The aim of our study was to report for the first time in literature the use of aflibercept in a patient with RP and CME.

Last Updated: 26 Jun 2015

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing.
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 11 Aug 2016

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Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 15 Jul 2016

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Last Updated: 28 Apr 2016

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