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Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa

  • Chapter
Retinal Degeneration

Summary

The most prevalent group of genetically determined progressive retinopathies, currently affecting approximately 1.5 million people, is collectively termed retinitis pigmentosa (RP). RP describes a heterogeneous group of disorders primarily involving photoreceptor degeneration. The rapid development of highly informative DNA polymorphisms as genetic markers throughout the human genome has facilitated the localisation of genes responsible for many human disorders such as RP. Furthermore, techniques for rapid identification of sequence variation have provided an effective means of investigating genes that are considered to be ‘candidates’ for a particular disease in a given patient population. Such techniques have been successfully applied to the study of RP. In this paper, we will deal mainly with the recent developments in the autosomal dominantly inherited forms of RP, in particular highlighting the extensive genetic heterogeneity which we now know to be inherent in this group of diseases.

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Authors and Affiliations

  1. Dept. of Genetics, Trinity College Dublin, Dublin 2, Ireland

    G. Jane Farrar, Siobhán A. Jordan, Rajendra Kumar-Singh, Paul F. Kenna, Marian M. Humphries, Elizabeth M. Sharp, Denise M. Sheils & Peter Humphries

  2. Dept. of Molecular Genetics, Institute of Ophthalmology, University of London, Bath Street, London, EC1V 9EL, England

    Chris F. Inglehearn, Cheryl Greggory, May Al-Maghtheh & Shomi S. Bhattacharya

  3. lnstitut fur Humangenetik, Medizinische Universitat zu Lubeck, Ratzeburger Allee 160, D-W2400, Lubeck, Federal Republic of Germany

    Andreas Gal, Susanna Bunge & Eberhard Schwinger

  4. Dept. of Ophthalmology, University of Florida, College of Medicine, Box 100284, J Hillis Miller Health Center, Gainesville, Florida, 32610, USA

    Paul A. Hargrave

  5. Dept. of Biochemistry, University of Otago, Dunaeden, New Zealand

    Michael J. Denton

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  1. G. Jane Farrar
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Editors and Affiliations

  1. Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA

    Joe G. Hollyfield  & Robert E. Anderson  & 

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

    Matthew M. LaVail

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Farrar, G.J. et al. (1993). Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_7

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  • DOI: https://doi.org/10.1007/978-1-4615-2974-3_7

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