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Atlas of Inherited Retinal Diseases

  • Book
  • © 2018

Overview

Editors:
  1. Stephen H. Tsang

    1. Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons Columbia University, New York, USA

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    You can also search for this editor in PubMed   Google Scholar

  2. Tarun Sharma

    1. Department of Ophthalmology, Edward S. Harkness Eye Institute NewYork-Presbyterian Hospital Columbia University, New York, USA

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Written and compiled by leading names in Stem Cell research, genome surgery and Ophthalmology
  • Traces more of the genetic medicine behind these disorders than its closest competitor
  • A remarkable package of illustrations – black and white and color – enhanced and expanded upon by the accompanying text

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

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Table of contents (52 chapters)

  1. Front Matter

    Pages i-xix
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  2. Basic Knowledge

    1. Front Matter

      Pages 1-1
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    2. Retinal Histology and Anatomical Landmarks

      • Stephen H. Tsang, Tarun Sharma
      Pages 3-5

    3. Fluorescein Angiography

      • Stephen H. Tsang, Tarun Sharma
      Pages 7-10

    4. Optical Coherence Tomography

      • Stephen H. Tsang, Tarun Sharma
      Pages 11-13

    5. Fundus Autofluorescence

      • Stephen H. Tsang, Tarun Sharma
      Pages 15-16

    6. Electroretinography

      • Stephen H. Tsang, Tarun Sharma
      Pages 17-20

    7. Electrooculography

      • Stephen H. Tsang, Tarun Sharma
      Pages 21-22

    8. Glossary of Relevant Genetic and Molecular/Cell Biology

      • Stephen H. Tsang, Tarun Sharma
      Pages 23-28

  3. X-linked Forms

    1. Front Matter

      Pages 29-29
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    2. X-linked Retinitis Pigmentosa

      • Stephen H. Tsang, Tarun Sharma
      Pages 31-35

    3. X-linked Choroideremia

      • Stephen H. Tsang, Tarun Sharma
      Pages 37-42

    4. X-linked Juvenile Retinoschisis

      • Stephen H. Tsang, Tarun Sharma
      Pages 43-48

    5. X-linked Ocular Albinism

      • Stephen H. Tsang, Tarun Sharma
      Pages 49-52

    6. Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR)

      • Stephen H. Tsang, Tarun Sharma
      Pages 53-60

    7. Congenital Stationary Night Blindness

      • Stephen H. Tsang, Tarun Sharma
      Pages 61-64

    8. Blue Cone Monochromatism

      • Stephen H. Tsang, Tarun Sharma
      Pages 65-66

  4. Autosomal Dominant Forms

    1. Front Matter

      Pages 67-67
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    2. Autosomal Dominant Retinitis Pigmentosa

      • Stephen H. Tsang, Tarun Sharma
      Pages 69-77

    3. Best Vitelliform Macular Dystrophy

      • Stephen H. Tsang, Tarun Sharma
      Pages 79-90
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Keywords

About this book

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.


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Editors and Affiliations

  • Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons Columbia University, New York, USA

    Stephen H. Tsang

  • Department of Ophthalmology, Edward S. Harkness Eye Institute NewYork-Presbyterian Hospital Columbia University, New York, USA

    Tarun Sharma

About the editors

Stephen H. Tsang MD, PhD has been culturing embryonic stem (ES) cells since 1992 and in 1995 created the first mouse model for a recessive form of retinitis pigmentosa (RP) by applying homologous recombination to ES cell technology. Since 1996, the Dr. Tsang has been quantifying retinal function and structure in gene-targeted mutant mice. As the director an international referral center for inherited retinal degenerations, Dr. Tsang cares for a specific subgroup of patients that are most appropriately aligned with precision medicine. At times, patients suffer from a disorder that is related to an existing transgenic mouse model generated in the laboratory, and other times patients inspire new models. . Dr. Tsang's contributions to genetics has being recognized by the 2005 “Bernard Becker-Association of University Professor in Ophthalmology”-“Research to Prevent Blindness” Award, Carl Camras Award, and the 2013 Bradley Straatsma Lectureship.  Dr. Tsang received 2008 resident teaching award. He is also a standing member of the “DPVS” study section at NIH, American Society for Clinical Investigation, American Ophthalmological Society and Macular Society.


Tarun Sharma


For over three decades, Tarun Sharma was associated with a tertiary eye care institute – SANKARA NETHRALAYA – Chennai, India. He was the director of vitreoretinal services and professor of ophthalmology for over a decade. For his distinguished contribution to the field of ophthalmology, he was awarded thrice by the American Academy of Ophthalmology: Achievement Award (2007), International Ophthalmologist Education Award (2009), and the International Scholar Award (2011). In 2017, he joined the Edward S. Harkness Institute, the Columbia University Medical Center, NY, and currently working as a gene therapist at Jonas Children's Vision Care.

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