Hereditary Retinopathies

Progress in Development of Genetic and Molecular Therapies

  • Pete Humphries
  • Marian M. Humphries
  • Lawrence C. S. Tam
  • G. Jane Farrar
  • Paul F. Kenna
  • Matthew Campbell
  • Anna-Sophia Kiang

Part of the SpringerBriefs in Genetics book series (BRIEFSGENETICS, volume 1)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell et al.
    Pages 1-10
  3. Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell et al.
    Pages 11-30
  4. Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell et al.
    Pages 31-46

About this book

Introduction

The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.

Authors and affiliations

  • Pete Humphries
    • 1
  • Marian M. Humphries
    • 2
  • Lawrence C. S. Tam
    • 3
  • G. Jane Farrar
    • 4
  • Paul F. Kenna
    • 5
  • Matthew Campbell
    • 6
  • Anna-Sophia Kiang
    • 7
  1. 1.Trinity College, Institute of GeneticsUniversity of DublinDublinIreland
  2. 2.Trinity College, Institute of GeneticsUniversity of DublinDublinIreland
  3. 3.Trinity College, Institute of GeneticsUniversity of DublinDublinIreland
  4. 4.Trinity College, Institute of GeneticsUniversity of DublinDublinIreland
  5. 5.Trinity College, Institute of GeneticsUniversity of DublinDublinIreland
  6. 6.Trinity College, Institute of GeneticsUniversity of DublinDublinIreland
  7. 7.Trinity College, Institute of GeneticsUniversity of DublinDublinIreland

Bibliographic information

  • DOI https://doi.org/10.1007/978-1-4614-4499-2
  • Copyright Information The Author(s) 2012
  • Publisher Name Springer, New York, NY
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-1-4614-4498-5
  • Online ISBN 978-1-4614-4499-2
  • Series Print ISSN 2191-5563
  • Series Online ISSN 2191-5571
  • About this book