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Retinal Dystrophy Gene Atlas

  • Sarwar Zahid
  • Kari Branham
  • Dana Schlegel
  • Mark E. Pennesi
  • Michel Michaelides
  • John Heckenlively
  • Thiran Jayasundera

Table of contents

  1. Front Matter
    Pages i-xiii
  2. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 1-5
  3. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 7-9
  4. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 11-12
  5. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 13-14
  6. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 15-18
  7. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 19-21
  8. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 23-24
  9. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 25-26
  10. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 27-28
  11. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 29-30
  12. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 31-32
  13. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 33-35
  14. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 37-41
  15. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 43-46
  16. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 47-49
  17. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 51-53
  18. CHM
    Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 55-57
  19. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 59-60
  20. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 61-63
  21. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 65-66
  22. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 67-70
  23. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 71-74
  24. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 75-78
  25. CRX
    Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 79-81
  26. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 83-84
  27. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 85-87
  28. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 89-90
  29. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 91-92
  30. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 93-94
  31. EYS
    Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 95-97
  32. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 99-100
  33. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 101-101
  34. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 103-105
  35. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 107-109
  36. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 111-111
  37. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 113-113
  38. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 115-116
  39. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 117-119
  40. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 121-122
  41. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 123-124
  42. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 125-127
  43. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 129-131
  44. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 133-135
  45. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 137-138
  46. MAK
    Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 139-140
  47. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 141-146
  48. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 147-149
  49. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 151-152
  50. Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively et al.
    Pages 153-159

About this book

Introduction

Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, Retinal Dystrophy Gene Atlas catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, Retinal Dystrophy Gene Atlas contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. Retinal Dystrophy Gene Atlas serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.


Keywords

Autosomal Dominant Inheritance Autosomal Recessive Inheritance Linked Inheritance Retinal Dystrophy eye disease ophthalmology

Authors and affiliations

  • Sarwar Zahid
    • 1
  • Kari Branham
    • 2
  • Dana Schlegel
    • 3
  • Mark E. Pennesi
    • 4
  • Michel Michaelides
    • 5
  • John Heckenlively
    • 6
  • Thiran Jayasundera
    • 7
  1. 1.Kellogg Eye CenterUniversity of MichiganAnn ArborUSA
  2. 2.Kellogg Eye CenterUniversity of MichiganAnn ArborUSA
  3. 3.Kellogg Eye CenterUniversity of MichiganAnn ArborUSA
  4. 4.Casey Eye InstituteOregon Health & Science UniversityPortlandUSA
  5. 5.Institute of OphthalmologyMoorfields Eye Hospital UCLLondonUnited Kingdom
  6. 6.Kellogg Eye CenterUniversity of MichiganAnn ArborUSA
  7. 7.Kellogg Eye CenterUniversity of MichiganAnn ArborUSA

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-10867-4
  • Copyright Information Springer International Publishing AG, part of Springer Nature 2018
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-10866-7
  • Online ISBN 978-3-319-10867-4
  • Buy this book on publisher's site
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