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Genetic and Rare Diseases Information Center (GARD)

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Retinitis pigmentosa

Other Names for this Disease
  • RP
More Names
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Overview


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 cells in the retina to breakdown and die, eventually resulting in vision loss. The first sign of RP is usually night blindness. As the condition progresses, affected individuals also develop tunnel vision. Sometimes RP occurs by itself (isolated RP), and other times it occurs with additional signs and symptoms (syndromic RP). Mutations in at least 50 genes have been found to cause 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. http://www.genome.gov/13514348. Accessed September 7, 2012.
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General Information

  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Medscape Reference 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 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.
  • Orphanet is a European reference portal for 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.
  • The 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.