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

 

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

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.
 

Author(s): Suddhasil Mookherjee, Suja Hiriyanna, Kayleigh Kaneshiro, Linjing Li, Yichao Li, Wei Li, Haohua Qian, Tiansen Li, Hemant Khanna, Peter Colosi, Anand Swaroop, Zhijian Wu

Journal: Hum. Mol. Genet.. 2015 Nov;24(22):6446-58.

 

Retinal neurodegenerative diseases are especially attractive targets for gene replacement therapy, which appears to be clinically effective for several monogenic diseases. X-linked forms of retinitis pigmentosa (XLRP) are relatively severe blinding disorders, resulting from progressive ...

Last Updated: 23 Oct 2015

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Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.
 

Author(s): Tharikarn Sujirakul, Michael K Lin, Jimmy Duong, Ying Wei, Sara Lopez-Pintado, Stephen H Tsang

Journal: Am. J. Ophthalmol.. 2015 Oct;160(4):786-98.e4.

 

To determine the rate of progression and optimal follow-up time in patients with advanced-stage retinitis pigmentosa (RP) comparing the use of fundus autofluorescence imaging and spectral-domain optical coherence tomography.

Last Updated: 14 Sep 2015

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Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.
 

Author(s): Houbin Zhang, Christin Hanke-Gogokhia, Li Jiang, Xiaobo Li, Pu Wang, Cecilia D Gerstner, Jeanne M Frederick, Zhenglin Yang, Wolfgang Baehr

Journal: FASEB J.. 2015 Mar;29(3):932-42.

 

The retinitis pigmentosa 2 polypeptide (RP2) functions as a GTPase-activating protein (GAP) for ARL3 (Arf-like protein 3), a small GTPase. ARL3 is an effector of phosphodiesterase 6 Δ (PDE6D), a prenyl-binding protein and chaperone of prenylated protein in photoreceptors. Mutations ...

Last Updated: 3 Mar 2015

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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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Symptoms, Diagnosis, and Treatment

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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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VX-970 and Whole Brain Radiation Therapy in Treating Patients With Brain Metastases From Non-Small Cell Lung Cancer
 

Status: Recruiting

Condition Summary: Lung Carcinoma Metastatic in the Brain; Stage IV Non-Small Cell Lung Cancer

 

Last Updated: 10 Nov 2016

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Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa; Cone Rod Dystrophy; Choroideremia

 

Last Updated: 11 Sep 2016

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