Retinitis pigmentosa 2

Common Name(s)

Retinitis pigmentosa 2, Retinitis pigmentosa 2, x-linked

Retinitis pigmentosa 2 is one of several different forms of retinitis pigmentosa (RP), 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. Retinitis pigmentosa 2 usually affects males.

Retinitis pigmentosa 2 is caused by a change (mutation) in the RP2 gene, which is located on the X chromosome, and is inherited in an x-linked recessive manner. Males have one X chromosome (one copy of the RP2 gene) and females have two X chromosomes (two copies of the RP2 gene). If a male has a mutation in their only RP2 gene copy, they do not have a working copy of the gene and will have retinitis pigmentosa. If females have a mutation in one of their two copies of the RP2 gene, they have another working copy as backup and typically will not have retinitis pigmentosa.

RP can be diagnosed with the use of vision tests and eye exams that show poor vision, rod dysfunction, and loss of photoreceptor function. There is currently 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. 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

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Retinitis pigmentosa 2" 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 2" returned 13 free, full-text research articles on human participants. First 3 results:

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
 

Author(s): Alice E Davidson, Nele Schwarz, Lina Zelinger, Gabriele Stern-Schneider, Amelia Shoemark, Benjamin Spitzbarth, Menachem Gross, Uri Laxer, Jacob Sosna, Panagiotis I Sergouniotis, Naushin H Waseem, Robert Wilson, Richard A Kahn, Vincent Plagnol, Uwe Wolfrum, Eyal Banin, Alison J Hardcastle, Michael E Cheetham, Dror Sharon, Andrew R Webster

Journal: Am. J. Hum. Genet.. 2013 Aug;93(2):321-9.

 

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector ...

Last Updated: 23 Oct 2013

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An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.
 

Author(s): Ahmed Bouhouche, Ali Benomar, Leila Errguig, Lamiae Lachhab, Naima Bouslam, Jehanne Aasfara, Sanaa Sefiani, Layachi Chabraoui, Elmostafa El Fahime, Abdeljalil El Quessar, Mohamed Jiddane, Mohamed Yahyaoui

Journal:

 

Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary ...

Last Updated: 7 May 2012

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Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.
 

Author(s): Toby W Hurd, Shuling Fan, Ben L Margolis

Journal: J. Cell. Sci.. 2011 Mar;124(Pt 5):718-26.

 

Ciliopathies represent a newly emerging group of human diseases that share a common etiology resulting from dysfunction of the cilium or centrosome. The gene encoding the retinitis pigmentosa 2 protein (RP2) is mutated in X-linked retinitis pigmentosa. RP2 localizes to the ciliary ...

Last Updated: 15 Feb 2011

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Recombinant Albumin Fusion Protein sEphB4-HSA in Treating Patients With Metastatic or Recurrent Solid Tumors
 

Status: Recruiting

Condition Summary: Unspecified Adult Solid Tumor, Protocol Specific

 

Last Updated: 6 Jul 2015

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Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa; Usher Syndrome Type 2; Usher Syndrome Type 3

 

Last Updated: 9 Mar 2015

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Gene Therapy for Blindness Caused by Choroideremia
 

Status: Recruiting

Condition Summary: Choroideremia

 

Last Updated: 5 Mar 2015

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