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

Efficacy of carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa: A meta-analysis.
 

Author(s): Qinzhu Huang, Ru Chen, Xianping Lin, Zhenyang Xiang

Journal:

 

Carbonic anhydrase inhibitors (CAI) are often used in the treatment of cystoid macular edema (CME) in retinitis pigmentosa (RP) patients. The aim of this meta-analysis is to gain a better understanding of the overall efficacy of CAI treatment.

Last Updated: 31 Dec 1969

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A Case of Unilateral Retinitis Pigmentosa Associated with Full Thickness Macular Hole.
 

Author(s): Lama Enani, Igor Kozak, Ehab Abdelkader

Journal: Middle East Afr J Ophthalmol. ;24(2):113-115.

 

A 44-year-old Saudi female presented with poor right eye vision for 3 years. Visual acuity (VA) was 20/400 in the right eye and 20/20 in the left eye. Examination and imaging showed all the typical features of retinitis pigmentosa in the right eye associated with full thickness macular ...

Last Updated: 31 Dec 1969

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Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.
 

Author(s): Roly Megaw, Hashem Abu-Arafeh, Melissa Jungnickel, Carla Mellough, Christine Gurniak, Walter Witke, Wei Zhang, Hemant Khanna, Pleasantine Mill, Baljean Dhillon, Alan F Wright, Majlinda Lako, Charles Ffrench-Constant

Journal:

 

Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause X-linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blindness. RPGR localises to the photoreceptor connecting cilium where its function remains unknown. Here we show, using murine ...

Last Updated: 31 Dec 1969

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

Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention.
 

Author(s): S Strong, G Liew, M Michaelides

Journal: Br J Ophthalmol. 2017 Jan;101(1):31-37.

 

Hereditary retinal diseases are now the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales, of which retinitis pigmentosa (RP) is the most common disorder. RP may be complicated by cystoid macular oedema (CMO), causing a ...

Last Updated: 31 Dec 1969

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A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.
 

Author(s): F S Sorrentino, C E Gallenga, C Bonifazzi, P Perri

Journal: Eye (Lond). 2016 Dec;30(12):1542-1548.

 

Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by a complex association between tremendous genotypic multiplicity and great phenotypic heterogeneity. The severity of the clinical manifestation depends on penetrance and expressivity of the disease-gene. ...

Last Updated: 31 Dec 1969

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Retinitis Pigmentosa: Progress and Perspective.
 

Author(s): Qingjiong Zhang

Journal: Asia Pac J Ophthalmol (Phila). ;5(4):265-71.

 

Retinitis pigmentosa is the most common form of hereditary retinal degeneration causing blindness. Great progress has been made in the identification of the causative genes. Gene diagnosis will soon become an affordable routine clinical test because of the wide application of next-generation ...

Last Updated: 31 Dec 1969

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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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