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.
 

Advocacy and 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 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:

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
 

Author(s): Stephen P Daiger, Lori S Sullivan, Sara J Bowne, Daniel C Koboldt, Susan H Blanton, Dianna K Wheaton, Cheryl E Avery, Elizabeth D Cadena, Robert K Koenekoop, Robert S Fulton, Richard K Wilson, George M Weinstock, Richard A Lewis, David G Birch

Journal: Adv. Exp. Med. Biol.. 2016 ;854():193-200.

 

Whole-genome linkage mapping identified a region on chromosome 10q21.3-q22.1 with a maximum LOD score of 3.0 at 0 % recombination in a six-generation family with autosomal dominant retinitis pigmentosa (adRP). All known adRP genes and X-linked RP genes were excluded in the family ...

Last Updated: 2 Oct 2015

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Last Updated: 8 Nov 2014

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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
 

Author(s): Lori S Sullivan, Daniel C Koboldt, Sara J Bowne, Steven Lang, Susan H Blanton, Elizabeth Cadena, Cheryl E Avery, Richard A Lewis, Kaylie Webb-Jones, Dianna H Wheaton, David G Birch, Razck Coussa, Huanan Ren, Irma Lopez, Christina Chakarova, Robert K Koenekoop, Charles A Garcia, Robert S Fulton, Richard K Wilson, George M Weinstock, Stephen P Daiger

Journal:

 

To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP).

Last Updated: 8 Nov 2014

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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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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

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

Status: Recruiting

Condition Summary: Usher Syndrome; Retinitis Pigmentosa

 

Last Updated: 29 Mar 2016

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AUgmented REality for the Visually Impaired - Part 1
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa; Glaucoma

 

Last Updated: 30 May 2016

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Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)
 

Status: Recruiting

Condition Summary: Inherited Ophthalmic Diseases; Inherited Retinal Degeneration

 

Last Updated: 6 Aug 2016

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