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Retinal Dystrophy Gene Atlas

Authors: Zahid, S., Branham, K., Schlegel, D., Pennesi, M.E., Michaelides, M., Heckenlively, J., Jayasundera, T.

  • Describes a gene and all its possible clinical phenotypes and patient characteristics, along with retinal photos depicting each possible phenotype
  • Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide
  • Contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene
  • Includes stunning clinical color photographs of the retina, autofluorescence imaging, and electrophysiologic findings and cross-sectional imaging
  • Serves as a resource to aid genetic diagnosis in patients with retinal dystrophies by retina specialists and pediatric ophthalmologists in the United States, as well as hundreds of fellows and residents that enter the workforce each year
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Buy this book

eBook $169.00
price for USA in USD (gross)
  • ISBN 978-3-319-10867-4
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $219.00
price for USA in USD
  • ISBN 978-3-319-10866-7
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $219.99
price for USA in USD
  • Customers within the U.S. and Canada please contact Customer Service at +1-800-777-4643, Latin America please contact us at +1-212-460-1500 (24 hours a day, 7 days a week).
  • Due: August 30, 2019
  • ISBN 978-3-030-13234-7
  • Free shipping for individuals worldwide
About this book

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.

About the authors

Sarwar Zahid, MS, MDUniversity of Michigan Kellogg Eye CenterAnn Arbor, MI, USA 

Kari Branham, MS, CGC University of Michigan Kellogg Eye CenterAnn Arbor, MI, USA

Dana Schlegel, MS, MPH, CGC University of MichiganKellogg Eye CenterAnn Arbor, MI, USA

Mark Pennesi, PhD, MDCasey Eye InstitutePortland, OR, USA

Michel Michaelides, MB, MDMoorfields Eye HospitalLondon, United Kingdom

John Heckenlively, MDUniversity of Michigan Kellogg Eye Center Ann Arbor, MI, USA

Thiran Jayasundera, MDUniversity of Michigan Kellogg Eye CenterAnn Arbor, MI, USA

Table of contents (84 chapters)

Table of contents (84 chapters)
  • ABCA4

    Pages 1-5

    Zahid, Sarwar, MS, MD (et al.)

  • AIPL1

    Pages 7-9

    Zahid, Sarwar, MS, MD (et al.)

  • ALMS1

    Pages 11-12

    Zahid, Sarwar, MS, MD (et al.)

  • ARL6/BBS3

    Pages 13-14

    Zahid, Sarwar, MS, MD (et al.)

  • BBS1

    Pages 15-18

    Zahid, Sarwar, MS, MD (et al.)

Buy this book

eBook $169.00
price for USA in USD (gross)
  • ISBN 978-3-319-10867-4
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $219.00
price for USA in USD
  • ISBN 978-3-319-10866-7
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $219.99
price for USA in USD
  • Customers within the U.S. and Canada please contact Customer Service at +1-800-777-4643, Latin America please contact us at +1-212-460-1500 (24 hours a day, 7 days a week).
  • Due: August 30, 2019
  • ISBN 978-3-030-13234-7
  • Free shipping for individuals worldwide
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Bibliographic Information

Bibliographic Information
Book Title
Retinal Dystrophy Gene Atlas
Authors
Copyright
2018
Publisher
Springer International Publishing
Copyright Holder
Springer International Publishing AG, part of Springer Nature
eBook ISBN
978-3-319-10867-4
DOI
10.1007/978-3-319-10867-4
Hardcover ISBN
978-3-319-10866-7
Softcover ISBN
978-3-030-13234-7
Edition Number
1
Number of Pages
XIII, 279
Number of Illustrations
6 b/w illustrations, 163 illustrations in colour
Topics