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.

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

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
 

Author(s): Fei Liu, Yayun Qin, Shanshan Yu, Dinesh C Soares, Lifang Yang, Jun Weng, Chang Li, Meng Gao, Zhaojing Lu, Xuebin Hu, Xiliang Liu, Tao Jiang, Jing Yu Liu, Xinhua Shu, Zhaohui Tang, Mugen Liu

Journal: J. Biol. Chem.. 2017 04;292(15):6225-6239.

 

Mutations in retinitis pigmentosa 2 () account for 10-20% of X-linked retinitis pigmentosa (RP) cases. The encoded RP2 protein is implicated in ciliary trafficking of myristoylated and prenylated proteins in photoreceptor cells. To date >70 mutations in have been identified. How ...

Last Updated: 31 Dec 1969

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Retinitis Pigmentosa Mutations in Bad Response to Refrigeration 2 (Brr2) Impair ATPase and Helicase Activity.
 

Author(s): Sarah Ledoux, Christine Guthrie

Journal: J. Biol. Chem.. 2016 Jun;291(23):11954-65.

 

Brr2 is an RNA-dependent ATPase required to unwind the U4/U6 snRNA duplex during spliceosome assembly. Mutations within the ratchet helix of the Brr2 RNA binding channel result in a form of degenerative human blindness known as retinitis pigmentosa (RP). The biochemical consequences ...

Last Updated: 31 Dec 1969

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Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice.
 

Author(s): Linjing Li, Kollu Nageswara Rao, Yun Zheng-Le, Toby W Hurd, ConcepciĆ³n Lillo, Hemant Khanna

Journal: Cytoskeleton (Hoboken). 2015 Sep;72(9):447-54.

 

Degeneration of photoreceptors (rods and cones) results in blindness. As we rely almost entirely on our daytime vision mediated by the cones, it is the loss of these photoreceptors that results in legal blindness and poor quality of life. Cone dysfunction is usually observed due to ...

Last Updated: 31 Dec 1969

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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

VX-970 and Whole Brain Radiation Therapy in Treating Patients With Brain Metastases From Non-small Cell Lung Cancer, Small Cell Lung Cancer, or Neuroendocrine Tumors
 

Status: Recruiting

Condition Summary: Lung Carcinoma Metastatic in the Brain; Lung Neuroendocrine Neoplasm; Stage IV Non-Small Cell Lung Cancer AJCC v7; Stage IV Small Cell Lung Carcinoma AJCC v7

 

Last Updated: 26 Jun 2018

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sEphB4-HSA in Treating Participants With BCG-Unresponsive or Refractory Bladder Cancer
 

Status: Not yet recruiting

Condition Summary: Recurrent Bladder Carcinoma; Stage 0a Bladder Cancer AJCC v8; Stage 0is Bladder Cancer AJCC v8; Stage I Bladder Cancer AJCC v8

 

Last Updated: 8 Jun 2018

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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: 23 May 2018

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