Saturday, January 30, 2016

Retinitis Pigmentosa (RP) Awareness Ribbon Art Gifts

What is Retinitis Pigmentosa (RP)?

Support Retinitis Pigmentosa Awareness Purple Ribbon Angel Art Magnet
Support Retinitis Pigmentosa Awareness Purple Ribbon Angel
Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind.
The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.
Retinitis Pigmentos Awareness Angel Ribbon Art Pin
Retinitis Pigmentosa Awareness Angel Ribbon Art Pin 
Less commonly, retinitis pigmentosa occurs as part of syndromes that affect other organs and tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP).
How common is retinitis pigmentosa?
Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe.

What genes are related to retinitis pigmentosa?

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Retinitis Pigmentosa Awareness Ribbon
Purple Angel Custom Art Shirts
Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in theRHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases. At least 35 genes have been associated with the autosomal recessive form of the disorder. The most common of these is USH2A; mutations in this gene are responsible for 10 to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought to cause the X-linked form of the disorder. Together, mutations in the RPGR and RP2 genes account for most cases of X-linked retinitis pigmentosa.
The genes associated with retinitis pigmentosa play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the retina. These cells transmit visual signals from the eye to the brain. The retina contains two types of photoreceptors, rods and cones. Rods are responsible for vision in low light, while cones provide vision in bright light, including color vision.
Mutations in any of the genes responsible for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with retinitis pigmentosa. Rods typically break down before cones, which is why night vision impairment is usually the first sign of the disorder. Daytime vision is disrupted later, as both rods and cones are lost.
Read more about the RHORP2RPGR, and USH2A genes.
See a list of genes associated with retinitis pigmentosa.

How do people inherit retinitis pigmentosa?

Retinitis pigmentosa often has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant retinitis pigmentosa have an affected parent and other family members with the disorder.
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Retinitis pigmentosa can also have an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This condition can also be inherited in an X-linked pattern. The genes associated with X-linked retinitis pigmentosa are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females, (who have two X chromosomes), mutations usually have to occur in both copes of the gene to cause the disorder. However, at least 20 percent of females who carry only one mutated copy of the gene develop retinal degeneration and associated vision loss. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In 10 to 40 percent of all cases of retinitis pigmentosa, only one person in a family is affected. In these families, the disorder is described as simplex. It can be difficult to determine the inheritance pattern of simplex cases because affected individuals may have no affected relatives or may be unaware of other family members with the disease. Simplex cases can also result from a new gene mutation that is not present in other family members.

Where can I find information about diagnosis or management of retinitis pigmentosa?

These resources address the diagnosis or management of retinitis pigmentosa and may include treatment providers.


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Retinitis Pigmentosa Purple Awareness
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You might also find information on the diagnosis or management of retinitis pigmentosa inEducational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about retinitis pigmentosa?
You may find the following resources about retinitis pigmentosa helpful. These materials are written for the general public.
·        MedlinePlus - Health information (2 links)
·        Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (2 links)
·        Additional NIH Resources - National Institutes of Health (2 links)
·        Educational resources - Information pages (7 links)
·        Patient support - For patients and families (7 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
·        Gene ReviewsThis link leads to a site outside Genetics Home Reference. - Clinical summary
·        Genetic Testing Registry - Repository of genetic test information (1 link)
·        ClinicalTrials.govThis link leads to a site outside Genetics Home Reference. - Linking patients to medical research
·        PubMedThis link leads to a site outside Genetics Home Reference. - Recent literature
·        OMIMThis link leads to a site outside Genetics Home Reference. - Genetic disorder catalog
What other names do people use for retinitis pigmentosa?
  • cone-rod retinal dystrophy
  • pigmentary retinopathy
  • rod-cone dystrophy
  • RP
  • tapetoretinal degeneration
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about retinitis pigmentosa?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
·        What is mitochondrial DNA?
These links provide additional genetics resources that may be useful.
·        Genetics and Health
What glossary definitions help with understanding retinitis pigmentosa?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

The above information is from the National Institutes for Health.  Learn more on their website at http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa.

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Retinitis Pigmentosa uses a purple ribbon for its cause awareness.  Buy Retinitis Pigmentosa Awareness Ribbon Gifts online.  There are also options of the purple awareness ribbon art on Zazzle or CafePress.  Learn more about Awareness Gallery Ribbon Art.

Retinitis Pigmentosa Awareness Ribbon Keychain
Retinitis Pigmentosa Awareness Ribbon Keychain















5 comments:

  1. This comment has been removed by the author.

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  3. This is very interesting and an informative article. I did not know about this facts on test & retinitis pigmentosa treatment.My brother is a patient of this disease and we were looking for some effective treatment within a reasonable cost.

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  4. i read a lot of stuff and i found that the way of writing to clearifing that exactly want to say was very good so i am impressed and ilike to come again in future.. Retinitis Pigmentosa

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  5. Did you know? Retinitis Pigmentosa is a genetic and rare eye condition, affecting approximately 1 in 4000 people in the United States and 1 in 3500 people in Canada. It results in progressive damage to the retina. Schedule regular full optometric eye exam to monitor your vision and manage symptoms.

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