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Inherited Chorioretinal Dystrophies

A Textbook and Atlas

  • Provides clear clinical descriptions of the inherited chorioretinal dystrophies

  • Describes the functional repercussions of these diseases

  • Presents up-to-date information on their genetic basis

  • Written by renowned experts in the field

  • Lavishly illustrated with unique and rare illustrations

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eBook USD 109.00
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Softcover Book USD 139.99
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Hardcover Book USD 199.99
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Table of contents (54 chapters)

  1. Front Matter

    Pages i-xv
  2. Investigations

    1. Front Matter

      Pages 1-1
    2. Introduction to Molecular Genetics and Genetic Testing for Retinal Dystrophies

      • Georgina Hall, Graeme Charles M. Black
      Pages 3-12
    3. Electrophysiological Testing

      • Graham E. Holder
      Pages 13-18
    4. Dark Adaptation

      • Jean Claude Hache
      Pages 19-20
    5. Fluorescein Angiography

      • Jean-Jacques De Laey
      Pages 21-29
    6. Indocyanine Green Angiography

      • Jean-Jacques De Laey
      Pages 31-39
    7. Fundus Autofluorescence Imaging in Retinal Dystrophies

      • Monika Fleckenstein, Peter Charbel Issa, Frank G. Holz
      Pages 41-59
    8. Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies

      • Isabelle Meunier, Isabelle Bouvet-Drumare, Xavier Zanlonghi, Martine Mauget-Faysse, Carl Arndt, Christian Hamel et al.
      Pages 61-74
  3. Inherited Retinal Dystrophies

    1. Front Matter

      Pages 75-75
    2. Inherited Stationary Disorders of the Retina

      • Isabelle Audo, Graham E. Holder, Anthony T. Moore
      Pages 77-98
    3. Retinitis Pigmentosa and Allied Disorders

      • Bernard Puech, Jean-Jacques De Laey
      Pages 99-120
    4. Retinitis Punctata Albescens

      • Christian Hamel, Elodie Dessalces, Isabelle Meunier
      Pages 135-141
    5. Usher Syndromes

      • Bart P. Leroy
      Pages 143-149
    6. Cone and Cone–Rod Dystrophies

      • Michel Michaelides
      Pages 151-163
    7. Enhanced S-Cone Syndrome

      • Graham E. Holder
      Pages 165-169
    8. Late-Onset Retinal Dystrophy (LORD)

      • Graham E. Holder
      Pages 181-183
    9. Stargardt Disease

      • Bernard Puech, Jean-Jacques De Laey
      Pages 185-195

About this book

This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.

Editors and Affiliations

  • Service d’Exploration de la Vision et Neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Hôpital Roger Salengro, Lille Cedex, France

    Bernard Puech

  • Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium

    Jean-Jacques De Laey

  • Department of Electrophysiology, Moorfields Eye Hospital, London, United Kingdom

    Graham E. Holder

About the editors

Bernard Puech, MD, is Consultant Ophthalmologist in the Service d’Exploration Fonctionnelle de la Vision et Neuro-ophtalmologie  at the  Centre Hospitalier Régional Universitaire, Hôpital Roger Salengro, Lille Cedex, France. He has published  extensively on ophthalmic genetics.

Jean-Jacques de Laey, MD, PhD, is Emeritus Professor of Ophthalmology at Ghent University, Belgium. He is Vice-President of the International Council of Ophthalmology until April 2014 and a Board Member of the ICO Foundation. Professor de Laey is one of the Founders of the European Society for Retina Specialists, of EUPO (European University Professors in Ophthalmology), and of EVER (European Vision and Eye Research). He is the author of 5 books and has published over 250 papers, mainly on medical retina.

Graham E. Holder, PhD, has been Director of Electrophysiology and Consultant Electrophysiologist at Moorfields Eye Hospital, London, since 1995. Professor Holder’s early publications related to VEPs, but he has subsequently focused on retinal disease. He has authored over 190 peer-reviewed publications as well as over 35 book chapters, and has also co-authored a CDROM. He is a co-author the American Academy of Ophthalmology monograph on Clinical Visual Electrophysiologic Testing.  He was awarded an Honorary Professorship of University College London, at the Institute of Ophthalmology, in 2007, and of the University of Sydney, at Sydney Medical School, in 2013. Professor Holder was joint recipient of a prestigious Alcon award in 2010. He is a past President of EVER, the European Association for Vision and Eye Research, and has been Director of Education of the International Society for Clinical Electrophysiology of Vision (ISCEV) since 2001.

Bibliographic Information

  • Book Title: Inherited Chorioretinal Dystrophies

  • Book Subtitle: A Textbook and Atlas

  • Editors: Bernard Puech, Jean-Jacques De Laey, Graham E. Holder

  • DOI: https://doi.org/10.1007/978-3-540-69466-3

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer-Verlag Berlin Heidelberg 2014

  • Hardcover ISBN: 978-3-540-69464-9Published: 08 August 2014

  • Softcover ISBN: 978-3-662-51801-4Published: 27 September 2016

  • eBook ISBN: 978-3-540-69466-3Published: 19 July 2014

  • Edition Number: 1

  • Number of Pages: XV, 488

  • Number of Illustrations: 89 b/w illustrations, 339 illustrations in colour

  • Topics: Ophthalmology, Human Genetics, Pathology

Buy it now

Buying options

eBook USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access