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Handbook of Pediatric Retinal Disease pp 135–177Cite as

Retinitis Pigmentosa and Associated Disorders

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Abstract

Retinitis pigmentosa (RP) is a general term used to refer to a group of related inherited diseases typically characterized by poor vision in dim light, constricted visual fields, bone spicule-like pigmentation of the fundus, and electroretinographic evidence of photoreceptor cell dysfunction. These diseases can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive trait. Mitochondrial inheritance has also been described, often as part of a syndrome. It has been estimated that RP affects approximately 1 in 3700 people in the United States. Inherited retinopathies affect approximately 1 in 2000 individuals worldwide. Approximately 20% of these cases are autosomal dominant,and 6%to 9% are X-linked. The remaining 71% to 84% are either autosomal recessive or isolated “simplex” cases. The latter may represent autosomal recessive disease, a new autosomal dominant mutation,or an environmental phenocopy. In the United Kingdom, X-linked RP appears to be more common than in the United States.

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Authors
  1. Arlene V. Drack
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  2. Alan E. Kimura
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Editor information

Editors and Affiliations

  1. Wright Foundation for Pediatric Ophthalmology, Los Angeles, CA, USA

    Kenneth W. Wright MD (Director and Clinical Professor of Ophthalmology) (Director and Clinical Professor of Ophthalmology)

  2. Pediatric Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA, USA

    Kenneth W. Wright MD (Director and Clinical Professor of Ophthalmology) (Director and Clinical Professor of Ophthalmology)

  3. University of Southern California—Keck School of Medicine, Los Angeles, CA, USA

    Kenneth W. Wright MD (Director and Clinical Professor of Ophthalmology) (Director and Clinical Professor of Ophthalmology)

  4. Focus On You, Inc., Palm Desert, CA, USA

    Peter H. Spiegel MD

  5. Inland Eye Clinic, Murrieta, CA, USA

    Peter H. Spiegel MD

  6. Children’s Eye Institute, Upland, CA, USA

    Peter H. Spiegel MD

  7. Stroger Hospital of Cook County, Chicago, IL, USA

    Lisa S. Thompson MD (Attending Physician) (Attending Physician)

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Drack, A.V., Kimura, A.E. (2006). Retinitis Pigmentosa and Associated Disorders. In: Wright, K.W., Spiegel, P.H., Thompson, L.S. (eds) Handbook of Pediatric Retinal Disease. Springer, New York, NY. https://doi.org/10.1007/0-387-27933-4_5

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  • DOI: https://doi.org/10.1007/0-387-27933-4_5

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