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X-Linked Retinitis Pigmentosa: Current Status

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New Insights Into Retinal Degenerative Diseases

Abstract

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal degenerative diseases, characterized by nightblindness, progressive restriction of the visual field and pigmentary retinopathy.1 At least 28 different genetic loci have been mapped for autosomal dominant, autosomal recessive, and X-linked forms of RP. [http://www.sph.uth.tmc.edu/Retnet/home.htm] The X-linked RP (XLRP) subtype is the most severe, with an early age of onset and more rapid progression, accounting for 10 to 20% of RP families.2,3 XLRP is also genetically heterogeneous with at least 5 mapped loci: RP2, RP3, RP6, RP23 and RP24, as schematically depicted in Figure 1. By linkage analysis, RP2 is predicted to account for 10–20% of XLRP and RP3 for 70–90%,4–6 depending on the population. Genes for these two major loci have now been cloned. Our laboratory has been involved in the mutational screening and functional analysis of the two identified XLRP genes (RPGR and RP2), as well as the positional cloning of two other XLRP loci (RP6 and RP24). This report summarizes these efforts as well as the current standing of XLRP research.

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Author information

Authors and Affiliations

  1. Dept. of Human Genetics, University of Michigan, Ann Arbor, MI, USA

    Debra K. Breuer & Anand Swaroop

  2. C.N.R.-I.T.B.A., Milano, Italy

    Maurizio Affer, Elena Redolfi & Ileana Zucchi

  3. Dept. of Ophthalmology, University Hospital, Lund, Sweden

    Sten Andreasson

  4. Retina Foundation of the Southwest, Dallas, TX, USA

    David G. Birch & Dennis R. Hoffman

  5. University of Illinois at Chicago, Chicago, IL, USA

    Gerald A. Fishman

  6. Jules Stein Eye Institute/UCLA, Los Angeles, CA, USA

    John R. Heckenlively

  7. Dept. of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA

    Suja Hiriyanna, Alan J. Mears, Paul A. Sieving, Beverly M. Yashar & Anand Swaroop

  8. Dept. of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA

    Samuel G. Jacobson

  9. Dept. of Ophthalmology, Downstate SUNY Brooklyn Medical Science Center, Brooklyn, NY, USA

    Maria A. Musarella

  10. MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK

    Alan F. Wright

Authors
  1. Debra K. Breuer
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  2. Maurizio Affer
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  3. Sten Andreasson
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  4. David G. Birch
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  5. Gerald A. Fishman
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  6. John R. Heckenlively
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  7. Suja Hiriyanna
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  8. Dennis R. Hoffman
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  9. Samuel G. Jacobson
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  10. Alan J. Mears
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  11. Maria A. Musarella
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  12. Elena Redolfi
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  13. Paul A. Sieving
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  14. Alan F. Wright
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  15. Beverly M. Yashar
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  16. Ileana Zucchi
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  17. Anand Swaroop
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Editor information

Editors and Affiliations

  1. Dean A. McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

  2. Beckman Vision Center, University of California, San Francisco, San Francisco, California, USA

    Matthew M. LaVail

  3. Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA

    Joe G. Hollyfield

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Breuer, D.K. et al. (2001). X-Linked Retinitis Pigmentosa: Current Status. In: Anderson, R.E., LaVail, M.M., Hollyfield, J.G. (eds) New Insights Into Retinal Degenerative Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-1355-1_2

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  • DOI: https://doi.org/10.1007/978-1-4615-1355-1_2

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