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Atlas of Inherited Retinal Diseases

  • Stephen H. Tsang
  • Tarun Sharma

Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

Table of contents

  1. Front Matter
    Pages i-xix
  2. Basic Knowledge

    1. Front Matter
      Pages 1-1
    2. Stephen H. Tsang, Tarun Sharma
      Pages 3-5
    3. Stephen H. Tsang, Tarun Sharma
      Pages 7-10
    4. Stephen H. Tsang, Tarun Sharma
      Pages 11-13
    5. Stephen H. Tsang, Tarun Sharma
      Pages 15-16
    6. Stephen H. Tsang, Tarun Sharma
      Pages 17-20
    7. Stephen H. Tsang, Tarun Sharma
      Pages 21-22
    8. Stephen H. Tsang, Tarun Sharma
      Pages 23-28
  3. X-linked Forms

    1. Front Matter
      Pages 29-29
    2. Stephen H. Tsang, Tarun Sharma
      Pages 31-35
    3. Stephen H. Tsang, Tarun Sharma
      Pages 37-42
    4. Stephen H. Tsang, Tarun Sharma
      Pages 43-48
    5. Stephen H. Tsang, Tarun Sharma
      Pages 49-52
    6. Stephen H. Tsang, Tarun Sharma
      Pages 53-60
    7. Stephen H. Tsang, Tarun Sharma
      Pages 61-64
    8. Stephen H. Tsang, Tarun Sharma
      Pages 65-66
  4. Autosomal Dominant Forms

    1. Front Matter
      Pages 67-67
    2. Stephen H. Tsang, Tarun Sharma
      Pages 69-77
    3. Stephen H. Tsang, Tarun Sharma
      Pages 79-90
    4. Stephen H. Tsang, Tarun Sharma
      Pages 91-96
    5. Stephen H. Tsang, Tarun Sharma
      Pages 103-104
    6. Stephen H. Tsang, Tarun Sharma
      Pages 105-108
    7. Stephen H. Tsang, Tarun Sharma
      Pages 109-110
    8. Stephen H. Tsang, Tarun Sharma
      Pages 111-113
    9. Stephen H. Tsang, Tarun Sharma
      Pages 115-116
  5. Autosomal Recessive Form

    1. Front Matter
      Pages 117-117
    2. Stephen H. Tsang, Tarun Sharma
      Pages 119-123
    3. Stephen H. Tsang, Tarun Sharma
      Pages 125-130
    4. Stephen H. Tsang, Tarun Sharma
      Pages 131-137
    5. Stephen H. Tsang, Tarun Sharma
      Pages 139-151
    6. Stephen H. Tsang, Tarun Sharma
      Pages 153-156
    7. Stephen H. Tsang, Tarun Sharma
      Pages 157-158
  6. Systemic Disorders

    1. Front Matter
      Pages 159-159
    2. Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma
      Pages 161-162
    3. Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma
      Pages 163-165
    4. Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma
      Pages 167-170
    5. Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma
      Pages 171-174
    6. Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma
      Pages 175-178
    7. Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma
      Pages 179-180
    8. Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma
      Pages 181-182
    9. Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma
      Pages 183-185
    10. Stephen H. Tsang, Tarun Sharma
      Pages 187-189
    11. Stephen H. Tsang, Tarun Sharma
      Pages 191-192
    12. Stephen H. Tsang, Tarun Sharma
      Pages 193-195
    13. Stephen H. Tsang, Tarun Sharma
      Pages 197-198
  7. Phakomatoses

    1. Front Matter
      Pages 199-199
    2. Stephen H. Tsang, Tarun Sharma
      Pages 201-203
    3. Stephen H. Tsang, Tarun Sharma
      Pages 205-207

About this book

Introduction

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they are related to the most frequently encountered genes. It will also meet the hitherto unmet need of PhD students who would benefit from seeing the phenotypes of the genes they work on and study. Further, because it would help geneticists use and familiarize themselves with the candidate gene approach to test patients' genomes, enabling them to test more efficiently and cost-efficiently (as the cost of genetic testing is quite high and spiralling higher). This invaluable atlas is organized into eight sections starting with the basic knowledge on retinal imaging as an introduction to the subject matter, then diseases are listed according to their inheritance pattern while disorders with extraocular manifestations are grouped by their defining features. This structure will be intuitive to clinicians and students studying IRDs.

Keywords

inherited retinal disease genetic eye disorder molecular genetics genome testing exon sequencing

Editors and affiliations

  • Stephen H. Tsang
    • 1
  • Tarun Sharma
    • 2
  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of OphthalmologyBiomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons Columbia UniversityNew YorkUSA
  2. 2.Department of OphthalmologyEdward S. Harkness Eye Institute NewYork-Presbyterian Hospital Columbia UniversityNew YorkUSA

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-95046-4
  • Copyright Information Springer International Publishing AG, part of Springer Nature 2018
  • Publisher Name Springer, Cham
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-319-95045-7
  • Online ISBN 978-3-319-95046-4
  • Series Print ISSN 0065-2598
  • Series Online ISSN 2214-8019
  • Buy this book on publisher's site