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

http://www.bardetbiedl.org/

Last Updated: 14 Mar 2013

View Details
Logo
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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

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.

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

View Details
Logo
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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
 

Author(s): Cristina Méndez-Vidal, María González-Del Pozo, Alicia Vela-Boza, Javier Santoyo-López, Francisco J López-Domingo, Carmen Vázquez-Marouschek, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo

Journal:

 

Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by extreme genetic and clinical heterogeneity. Thus, the diagnosis is not always easily performed due to phenotypic and genetic overlap. Current clinical practices have focused on the systematic evaluation of ...

Last Updated: 14 Nov 2013

Go To URL
Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.
 

Author(s): Tobias Duncker, Winston Lee, Stephen H Tsang, Jonathan P Greenberg, Jana Zernant, Rando Allikmets, Janet R Sparrow

Journal:

 

To report distinct characteristics of fundus autofluorescence (AF) patterns inferior to the optic disc in recessive Stargardt disease (STGD1) and retinitis pigmentosa (RP).

Last Updated: 18 Oct 2013

Go To URL
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
 

Author(s): Koji M Nishiguchi, Richard G Tearle, Yangfan P Liu, Edwin C Oh, Noriko Miyake, Paola Benaglio, Shyana Harper, Hanna Koskiniemi-Kuendig, Giulia Venturini, Dror Sharon, Robert K Koenekoop, Makoto Nakamura, Mineo Kondo, Shinji Ueno, Tetsuhiro R Yasuma, Jacques S Beckmann, Shiro Ikegawa, Naomichi Matsumoto, Hiroko Terasaki, Eliot L Berson, Nicholas Katsanis, Carlo Rivolta

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Oct;110(40):16139-44.

 

We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants. Eight patients were from ...

Last Updated: 2 Oct 2013

Go To URL

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:

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

Go To URL
Diagnostic imaging in patients with retinitis pigmentosa.
 

Author(s): Yoshinori Mitamura, Sayaka Mitamura-Aizawa, Toshihiko Nagasawa, Takashi Katome, Hiroshi Eguchi, Takeshi Naito

Journal: J. Med. Invest.. 2012 ;59(1-2):1-11.

 

Retinitis pigmentosa (RP) is a progressive inherited retinal disease, and patients with RP have reduced visual function caused by a degeneration of the photoreceptors and retinal pigment epithelium (RPE). At the end stage of RP, the degeneration of the photoreceptors in the fovea ...

Last Updated: 27 Mar 2012

Go To URL
[Structural development study of a novel pharmacological chaperone for folding-defective rhodopsin mutants responsible for retinitis pigmentosa].
 

Author(s): Kenji Ohgane, Kosuke Dodo, Yuichi Hashimoto

Journal: Yakugaku Zasshi. 2011 Mar;131(3):325-34.

 

The retinitis pigmentosa (RP)-causing mutant of rhodopsin, Pro23His (P23H) rhodopsin, is folding defective and unable to traffic beyond the endoplasmic reticulum (ER). This ER retention, and in some cases, aggregation are proposed to result in ER-stress and eventually cell death. ...

Last Updated: 4 Mar 2011

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History and Genetic Studies of Usher Syndrome
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa Syndromic; Congenital Deafness; Usher Syndrome; Retinitis Pigmentosa and Deafness; Progressive Hearing Loss; Retinitis Pigmentosa

 

Last Updated: 14 Mar 2014

Go to URL
Trial of Oral Valproic Acid for Retinitis Pigmentosa
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 11 Apr 2014

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

Status: Recruiting

Condition Summary: Usher Syndrome; Retinitis Pigmentosa

 

Last Updated: 14 Feb 2014

Go to URL