Skip to main content
  • Book
  • © 2021

Advances in Vision Research, Volume III

Genetic Eye Research around the Globe

  • Focuses on major advances in genetic eye research
  • Written by leading researchers from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research
  • Is a major resource for all related researchers, clinicians, clinical researchers, and eye health professionals

Part of the book series: Essentials in Ophthalmology (ESSENTIALS)

Buy it now

Buying options

eBook USD 119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 159.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 219.99
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

This is a preview of subscription content, log in via an institution to check for access.

Table of contents (31 chapters)

  1. Front Matter

    Pages i-xvii
  2. Global Women’s Eye Health: A Genetic Epidemiologic Perspective

    • Patrice M. Hicks, Leah A. Owen, Margaret M. DeAngelis
    Pages 11-46
  3. Establishing the Chinese Arm of GEGC

    • Zui Tao, Shiying Li, Jiayun Ren, Xiaohong Meng, Yong Liu, Zhengqin Yin
    Pages 47-50
  4. Human Material for Research: Eye Banking, Biobanking and Ethical Access

    • Graeme A. Pollock, Christopher Hodge, Gerard Sutton, Heather M. Machin
    Pages 51-60
  5. Current Understanding of Polypoidal Choroidal Vasculopathy

    • Sandeep Kumar, Yingbin Fu
    Pages 61-71
  6. The Contribution of Rare Allele and Junk Genome in AMD Pathogenesis

    • Kaushal Sharma, Rahul Tyagi, Priya Battu, Saurabh Kumar, Neel Kamal Sharma, Akshay Anand
    Pages 89-96
  7. Genetic Epidemiology of Quantitative Traits of Primary Open Angle Glaucoma

    • Sahil Thakur, Xiaoran Chai, Ching-Yu Cheng
    Pages 121-132
  8. Association Studies on Retina Diseases in Chinese Population

    • Li Gan, Bo Gong, Zhenglin Yang
    Pages 133-138
  9. Genome Analysis for Inherited Retinal Disease: The State of the Art

    • Kate Oprych, Raquel Sofia Silva, Nikolas Pontikos, Gavin Arno
    Pages 153-168
  10. Genotype–Phenotype of RPE65 Mutations: A Reference Guide for Gene Testing and Its Clinical Application

    • Zhen Yi, Christina Zeitz, Takeshi Iwata, J. Fielding Hejtmancik, Qingjiong Zhang
    Pages 181-196
  11. Genetic Variants and Impact in PDE6B Rod-Cone Dystrophy

    • Christopher J. G. Watson, Benjamin M. Nash, To Ha Loi, John R. Grigg, Robyn V. Jamieson
    Pages 197-206
  12. The Retinitis Pigmentosa Genes

    • Xue Chen, Chen Zhao
    Pages 207-221
  13. Primary Congenital Glaucoma Genetics: The Experience in Brazil

    • Mônica Barbosa de Melo, José Paulo Cabral de Vasconcellos, Vital Paulino Costa
    Pages 223-232
  14. Glaucoma Genetics in Pakistan

    • Humaira Ayub, Maleeha Azam, Shazia Micheal, Muhammad Imran Khan, Farah Akhtar, Chiea Chuen Khor et al.
    Pages 233-249
  15. Contributions of Promoter Variants to Complex Eye Diseases

    • Tsz Kin Ng, Chi Pui Pang
    Pages 251-273

About this book

This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book’s editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases around the globe.

Editors and Affiliations

  • National Eye Institute, National Institutes of Health, Bethesda, USA

    Gyan Prakash

  • National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Japan

    Takeshi Iwata

About the editors

Dr. Gyan Prakash is Director of Office of International Program Activities at National Eye Institute (NEI)- National Institutes of Health (NIH), USA. He served as the first Director of Transformational Medical Technologies Initiative (TMTI), a pioneer scientific research and product development program in the US Government with a budget of US$ 1.6 Billion. Before joining the U.S. Gov’t, Dr. Prakash served as the Chief Operating Officer and Executive Vice President at AMAR International, a life science program management company in the USA. Previously, he served as the President and CEO of Metastatin Pharmaceuticals. Dr. Prakash earned his international program management experience at Pfizer world headquarters in New York in several leadership roles. He has a PhD in Biomedical Sciences earned at University of Illinois at Urbana-Champaign and MBA in Management and fellowships at UCLA School of Medicine and Centers for Disease Control. He is the founding President of Global Eye Genetics Consortium (GEGC), previously Asian Eye Genetics Consortium (AEGC). 

Dr. Takeshi Iwata is Director of Molecular and Cellular Biology Division at National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center in Tokyo, Japan. He is known for his pioneering work in the field of retinal genetics and has worked at National Institutes of Health (NIH)- National Eye Institute (NEI) in Bethesda, MD, USA, in retina genetics laboratory, headed by Dr. George Inana. He and Dr. Inana moved to Bascom Palmer Eye Institute, University of Miami School of Medicine in Miami, Florida and continued working on inherited retinal diseases. Dr. Iwata returned to NEI laboratory headed by Dr. Deborah Carper on another major retinal disease, the diabetic retinopathy. Dr. Iwata earned his PhD at Meijo University in Japan. He is currently serving as President of Japan Eye Genetics Consortium (JEGC) and Global Eye Genetics Consortium (GEGC).

Bibliographic Information

  • Book Title: Advances in Vision Research, Volume III

  • Book Subtitle: Genetic Eye Research around the Globe

  • Editors: Gyan Prakash, Takeshi Iwata

  • Series Title: Essentials in Ophthalmology

  • DOI: https://doi.org/10.1007/978-981-15-9184-6

  • Publisher: Springer Singapore

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer Nature Singapore Pte Ltd. 2021

  • Hardcover ISBN: 978-981-15-9183-9Published: 19 February 2021

  • Softcover ISBN: 978-981-15-9186-0Published: 20 February 2022

  • eBook ISBN: 978-981-15-9184-6Published: 18 February 2021

  • Series ISSN: 1612-3212

  • Series E-ISSN: 2196-890X

  • Edition Number: 1

  • Number of Pages: XVII, 478

  • Number of Illustrations: 1 b/w illustrations, 47 illustrations in colour

  • Topics: Ophthalmology, Human Genetics

Buy it now

Buying options

eBook USD 119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 159.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 219.99
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