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Genetic Studies in Autosomal Recessive Forms of Retinitis Pigmentosa

  • A. F. Wright
  • D. C. Mansfield
  • E. A. Bruford
  • P. W. Teague
  • K. L. Thomson
  • R. Riise
  • Jay M.
  • M. A. Patton
  • S. Jeffery
  • A. Schinzel
  • N. Tommerup
  • M. Fossarello
Chapter

Abstract

Retinitis pigmentosa is a heterogeneous group of progressive retinal degenerations sharing a common set of clinical characteristics comprising night blindness, constricted visual fields, pigment deposition in the outer retina and diminished or absent electroretinogram (ERG). It affects about 1 in 4000 of the general population and occurs as autosomal dominant, autosomal recessive, X-linked and sporadic forms (Heckenlively, 1988; Humphries et al., 1992). The proportion of the different forms of RP varies between populations. In addition to the above group of patients with isolated retinal degeneration there is a sizeable group in whom the retinal degeneration forms part of a genetic syndrome with non-ocular manifestations. In one study in the United Kingdom for example, the syndromal group formed 16% of index cases with RP (Bundey and Crews, 1984). The most common syndromal forms of RP are Usher’s syndrome and Bardet-Biedl syndrome, both of which are inherited as autosomal recessive disorders.

Keywords

Retinitis Pigmentosa Retinal Degeneration Night Blindness Autosomal Recessive Form Homozygosity Mapping 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 1995

Authors and Affiliations

  • A. F. Wright
    • 1
  • D. C. Mansfield
    • 1
  • E. A. Bruford
    • 1
  • P. W. Teague
    • 1
  • K. L. Thomson
    • 1
  • R. Riise
    • 2
  • Jay M.
    • 3
  • M. A. Patton
    • 4
  • S. Jeffery
    • 4
  • A. Schinzel
    • 5
  • N. Tommerup
    • 6
  • M. Fossarello
    • 7
  1. 1.MRC Human Genetics UnitWestern General HospitalEdinburghUK
  2. 2.Eye DepartmentHamar SjukehusHamarNorway
  3. 3.Department of Clinical OphthalmologyUniversity of London Moorfields Eye HospitalLondonUnited Kingdom
  4. 4.Department of Clinical GeneticsSt George’s Hospital Medical SchoolLondonUnited Kingdom
  5. 5.Institute for Medical GeneticsUniversity of ZurichZurichSwitzerland
  6. 6.Department of Clinical GeneticsUinversity of OsloOsloNorway
  7. 7.Department of Clinical OphthalmologyUniversity of CagliariCagliari, SardiniaItaly

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