Retinitis pigmentosa 1

Common Name(s)

Retinitis pigmentosa 1

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Retinitis pigmentosa 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 1" returned 26 free, full-text research articles on human participants. First 3 results:

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
 

Author(s): Sara J Bowne, Lori S Sullivan, Cheryl E Avery, Elizabeth M Sasser, Austin Roorda, Jacque L Duncan, Dianna H Wheaton, David G Birch, Kari E Branham, John R Heckenlively, Paul A Sieving, Stephen P Daiger

Journal:

 

The purpose of this project was to determine the spectrum and frequency of mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) that cause autosomal dominant retinitis pigmentosa (adRP).

Last Updated: 9 Dec 2013

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A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
 

Author(s): Leila Tiab, Leila Largueche, Ibtissem Chouchane, Kaouthar Derouiche, Francis L Munier, Leila El Matri, Daniel F Schorderet

Journal:

 

Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss of rods. Autosomal recessive RP (arRP) ...

Last Updated: 17 Apr 2013

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A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.
 

Author(s): Codrut C Paun, Benjamin J Pijl, Anna M Siemiatkowska, Rob W J Collin, Frans P M Cremers, Carel B Hoyng, Anneke I den Hollander

Journal: Mol. Vis.. 2012 ;18():2447-53.

 

The purpose of this study is to identify the genetic defect in a Turkish family with autosomal recessive retinitis pigmentosa, nanophthalmos, and optic disc drusen.

Last Updated: 18 Oct 2012

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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 1" returned 0 free, full-text review articles on human participants.

 
 
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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: 24 Jun 2014

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Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa,; Cone Rod Dystrophy,; Choroideremia

 

Last Updated: 1 Dec 2014

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Repository for Inherited Eye Diseases
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa; Inherited Ophthalmic Diseases

 

Last Updated: 11 Nov 2014

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