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Diseases

Genetic and Rare Diseases Information Center (GARD)

Retinitis pigmentosa


Other Names for this Disease
  • RP
  • Rod-Cone Dystrophy
Related Diseases
  • Retinitis pigmentosa 1
  • Retinitis Pigmentosa 11
  • Retinitis pigmentosa 12
  • Retinitis Pigmentosa 13
  • Retinitis Pigmentosa 14
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.[1]  Currently, treatment options to slow down the progression of the disease include light avoidance, use of low-vision aids, and vitamin A supplementation. Researchers are working to develop new technologies including gene therapy, stem cell transplantation and prosthetic implants. These methods have been studied in animal models, and could potentially preserve and restore vision.[2][3]
Last updated: 2/23/2016

References

  1. Learning About Retinitis Pigmentosa. National Human Genome Research Institute Web site. December 27, 2013; http://www.genome.gov/13514348.
  2. Garg S. Retinitis pigmentosa: treatment. UpToDate. May 12 2015; http://www.uptodate.com/contents/retinitis-pigmentosa-treatment.
  3. Zarbin M. Cell-Based Therapy for Degenerative Retinal Disease. Trends in Molecular Medicine. February 2016; 22(2):115-34. http://www.ncbi.nlm.nih.gov/pubmed/26791247.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Retinitis pigmentosa. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • 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) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • RP
  • Rod-Cone Dystrophy
Related Diseases
  • Retinitis pigmentosa 1
  • Retinitis Pigmentosa 11
  • Retinitis pigmentosa 12
  • Retinitis Pigmentosa 13
  • Retinitis Pigmentosa 14
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.