Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • RP
Printer Friendly printer friendly version
Home > Genetic & Rare Diseases Information Center (GARD) > Retinitis pigmentosa



Retinitis pigmentosa
Please note that the links contained on this search results page may take you to sites outside of the NIH. (See Disclaimer under Site Policies for details.)
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 the breakdown cells in the retina that detect light and help us see. As these cells breakdown and die, people with RP lose their vision. The first sign of RP is typically night blindness. As the condition progresses, affected individuals usually lose their peripheral vision, which is called tunnel vision. There are many different genetic causes of RP. Sometimes RP occurs by itself (isolated RP), and other times it occurs with additional signs and symptoms (syndromic 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.[1]

References
  1. Learning About Retinitis Pigmentosa. National Human Genome Research Institute Web site. May 28, 2008 Available at: http://test.gardsecure.lmbps.com/home/asp/redir_login.asp. Accessed December 1, 2008.

Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
Show All Resources


For more information about Retinitis pigmentosa click on the boxes below:
More Detailed Information NLM Gateway Services Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 11 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
    • The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic. 
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Retinitis pigmentosa. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Retinitis pigmentosa. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists clinical laboratories offering genetic testing for retinitis pigmentosa. Some do not accept direct patient contact; therefore, patients who are interested in learning more will need to work with a health care provider or a genetic professional. GeneTests also lists laboratories that are conducting research on retinitis pigmentosa. Click on GeneTests to view the list.
    • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Retinitis pigmentosa. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.

Department of Health & Human Services National Institutes of Health USA.gov - government made easy


Note: If you need help accessing information in different file formats such as PDF, MP3, see Viewers, Players, and Plug-ins.