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RP1 Mutation Analysis

  • Sara J. Bowne
  • Stephen P. Daiger
  • Kimberly A. Malone
  • Jin Zuo
  • Kyeongmi Cheon
  • David G. Birch
  • Dianna Hughbanks-Wheaton
  • John R. Heckenlively
  • Debora B. Farber
  • Eric A. Pierce
  • Shomi S. Bhattacharya
  • Chris F. Inglehearn
  • Lori S. Sullivan

Abstract

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases which affects approximately 1 in 3500 people worldwide. RP is initially characterized by night blindness followed by progressive degeneration of the retina, often culminating in legal or complete blindness in the later decades of life (Heckenlively et al., 1997). To date 11 autosomal dominant (adRP), 13 autosomal recessive (arRP), 5 X-linked (xlRP), and one digenic form of retinitis pigmentosa have been identified (RetNet). While several disease-associated genes have been identified, the majority of genes remain unknown. Recently we identified the gene and mutations responsible for the RP1 form of autosomal dominant retinitis pigmentosa located on chromosome 8q (Sullivan et al., 1999; Pierce et al., 1999, Guillonneau et al., 1999).

Keywords

Retinitis Pigmentosa Retinal Degeneration Night Blindness Retinitis Pigmentosa Patient Additional Family Member 
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 2001

Authors and Affiliations

  • Sara J. Bowne
    • 1
  • Stephen P. Daiger
    • 1
    • 2
  • Kimberly A. Malone
    • 1
  • Jin Zuo
    • 2
    • 3
  • Kyeongmi Cheon
    • 3
  • David G. Birch
    • 4
  • Dianna Hughbanks-Wheaton
    • 4
  • John R. Heckenlively
    • 2
    • 5
  • Debora B. Farber
    • 2
    • 5
  • Eric A. Pierce
    • 2
    • 6
  • Shomi S. Bhattacharya
    • 7
  • Chris F. Inglehearn
    • 8
  • Lori S. Sullivan
    • 1
    • 2
  1. 1.Human Genetics Center and Dept. of OphthalmologyUniv. of Texas-HoustonUSA
  2. 2.The RP1 ConsortiumUK
  3. 3.St. Jude Children’s Research HospitalMemphisUSA
  4. 4.Retina Foundation of the SouthwestDallasUSA
  5. 5.Jules Stein Eye Inst.UCLAUSA
  6. 6.Scheie Eye Inst.Univ. of Penn.USA
  7. 7.Inst. of OphthalmologyUniv. CollegeLondonUK
  8. 8.Molecular Medicine UnitLeeds Univ.UK

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