ESSENTIALS IN OPHTHALMOLOGY
SERIES EDITOR: Arun D. Singh

Advances in Vision Research Volume III
Genetics Eye Reseaerch around the Globe
Editors: Gyan (John) Prakash and Takeshi Iwata
Section Editors: Chi Pui (Calvin) Pang, Paul N. Baird, S. Natarajan

This book - volume III is dedicated to the blind children of the world and the next generation of researchers who are choosing the field of vision research as their career to help understand the biology of eye diseases

Foreward:
Santa Tuminnia, National Eye Institute, NIH, Bethesda, MD, USA

Preface:
Gyan Prakash, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
Takeshi Iwata, National Institute of Sensory Organs, National Hospital Organization
Tokyo Medical Center, Tokyo, Japan

1. Expansion of Asian Eye Genetics Consortium (AEGC) to Global Eye Genetics Consortium (GEGC), Introduction of a global Phenotype-Genotype Database “GenEye” and Launch of New Training Programs at National Eye Institute (NEI)
Takeshi Iwata, Gyan Prakash, Sundaram Natarajan, Paul N. Baird, Calvin Pang

2. Global Women’s Eye Health: a Genetic Epidemiologic perspective
Patrice M. Hicks, Leah A. Owen, Margaret M. DeAngelis

3. Establishing the Chinese GEGC
Zui Tao, Shiying Li, Jiayun Ren, Xiaohong Meng, Yong Liu, Zhengqin Yin

4. Human Materials for Research: Eye Banking, Biobanking and Ethical Access
Graeme A. Pollock, Christopher Hodge, Gerard Sutton, Heather M. Machin

5. Current Understanding of Polypoidal Choroidal Vasculopathy
Sandeep Kumar, Yingbin Fu

6. Genetics of age-related macular degeneration in Asia
Kenji Yamashiro

7. The contribution of rare allele and Junk Genome in AMD pathogenesis
Kaushal Sharma, Rahul Tyagi, Priya Battu, Saurabh Kumar, Neel Kamal Sharma, Akshay Anand

8. Differential Genotypes in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy: A Updated Meta-Analysis
Haoyu Chen, Li Ma, Xulong Liao, Li Jia Chen, Chi Pui Pang

9. Genetic Epidemiology of Quantitative Traits of Primary Open Angle Glaucoma
Sahil Thakur, Xiaoran Chai, Cheng-Yu Ching

10. Association Studies on Retinal Diseases in China
Li Gan, Bo Gong, Zhenglin Yang

11. Congenital Stationalry Nightblindness (CSNB): An Inherited Retinal Disorder Where Clear Correlations Can Be Made
Christina Zeitz, Juliette Varin, Isabelle Audo

12. Genome Analysis for Inherited Retinal Disease: The State of the Art
Kate Oprych, Raquel Sofia Silva, Nikolas Pontikos, Gavin Arno

13. Generation and Analysis of Induced Photoreceptor-Like Cells from Fibroblasts of Patinets with Ritinitis Pigmentosa
Yuko Seko

14. Genotype-Phenotype of RPE65 Mutations: A Reference Guide for Gene Testing and Its Clinical Application
Zhen Yi, Christina Zeitz, Takeshi Iwata, J. Fielding Hetmancik, Qingjion Zhang

15. 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

16. The Retinitis Pigmentosa Genes
Xue Chen, Chen Zhao

17. Primary Congenital Glaucoma Genetics: The Experience in Brazil
Monica Barbosa de Melo, Jose Paulo Cabral de Vasconcellos, Vital Paulino Costa

18. Glaucoma Genetics in Pakistan
Humaira Ayub, Maleeha Azam, Shazia Micheal, Muhammad Imran Khan, Farah Akhtar, Chiea Chuen Khor, Tin Aung, Anneke den Hollander, Raheel Qamar

19. Contributions of Promotor Variants to Complex Eye Diseases
Tsz Kin Ng, Chi Pui Pang

20. Vascular Basement Membrane Thickening: Basis of Disease Pathology in Diabetic Retinopathy
Aravind Sankaramoorthy, Sayon Roy

21. Molecular Genetics and Clinical Aspects of Macular Corneal Dystrophy
Durga Murugan, Sindhura Devi Adsumilli, Namperumalsamy Venkatesh Prajna, Periasamy Sundaresan

22. The Congenital and Inherited Cataracts
J. Fielding Hejtmancik, Sohan Rao, Maria Lee, Celestine Zhao, William Fielding, Luke Xia, Elizabeth Fielding, Manuel Datiles III, Alan Shiels

23. Higher Order Aberrations: Differences Among Populations from Various Demographics
Gaurav Prakash

24. Genetics of Microphthalmia: Global and Indian Perspectives
Sankaranarayanan Rajkumar, Vidya Gopinathan Nair, Abhay Raghukant Vasavada

25. Regional Differences in Prevalence of Myopia: Genetic or Environmental Effects?
Samantha S. Y. Lee, David A. Mackey

26. Consortium for Refractive Error and Myopia (CREAM): Vision, Mission and Accomplishments
Annechien E. G. Haarman, Milly S. Tedja, CREAM Consortium, Magda A. Meester-Smoor, Jaakko Kaprio, David A, Makey, Jeremy A. Guggenheim, Chistopher J. Hammond, Caroline C. W. Klaver, Virginie J. M. Verhoeven

27. Oncologic Properties of Retinoblastoma Genes
Wai Kit Chu, Jason C. S. Yam, Li Jia Chen, Chi Pui Pang

28. Oncologic Implications of Genetic and Epigenetic Basis of Pterygium
Wai Kit Chu, Chi Pui Pang, Tsz Kin Ng

29. The Need for Alternative Therapies in Eye Disorders
Saurabh Kumar, Shweta Modgil, Kaushal Sharma, Akshay Anand

30. Gene Therapy and Retinal Diseases
Chitra Gopinath, Subhradeep Sarkar, Arkasubra Ghosh

31. The Use of Human Pluripotent Stem Cells (hPSCs) and CRISPR-Mediated Gene Editing in Retinal Diseases
Grace E. Lidgerwood, Alex W. Hewitt, Alice Pebay, Damian Hernandez

About the Editors

ESSENTIALS IN OPHTHALMOLOGY
SERIES EDITOR: Arun D. Singh

Advances in Vision Research Volume II
Genetics Eye Reseaerch in Asia and the Pacific
Editors: Gyan Prakash and Takeshi Iwata

This book - volume II is dedicated to the blind children of the world and the next generation of researchers who are choosing the field of vision research as their career to help understand the biology of eye diseases

Foreward:
Arun D. Singh, Series Editor, Cleveland Clinic Foundation, Cleveland, OH, USA
Peter Wiedemann, International Council of Ophthalmology, Leipzig University Eye Hospital, Leizig, Germany
Gullapalli N. Rao, President, L.V. Prasad Eye Institute, Hyderabad, India

Preface:
Gyan Prakash, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
Takeshi Iwata, National Institute of Sensory Organs, Tokyo Medical Center, National Hospital Organization, Tokyo, Japan

1. Asian Eye Genetics Consortium (AEGC): The First 5 Years
Gyan Prakash, Takeshi Iwata, Sundaram Natarajan, Paul N. Baird

2. A Bibliometric Analysis of AEGC Scientific Outreach
Pamela C. Sieving

3. Opportunity for Population-Based Eye Research in Asia and the Middle East: An NGO Perspective
Suzanne S. Gilbert, Thulasiraj Ravilla, and Leslie Louie

4. eyeGENE®: A Model for Advancing Research of Rare, Inherited Eye Conditions Through Biobanking and Data Sharing
R.S. Parrish, K. E. Goetz, S. J. Tumminia

5. Inherited Ocular Disease in the New Zealand Māori; Novel Genetic Mechanisms and Founder Effects
Andrea L. Vincent

6. Genetics of Ocular Diseases in Malaysia
A. T. Liza-Sharmini and T. A. Kamalden

7. Challenges and Opportunities in Genetic Research from the Perspective of a Tertiary Eye Care Hospital in Bangladesh
Nazmun Nahar, Mohammad Ibn Abdul Malek, and Bipul Kumer De Sarker

8. Genetic Research on Ocular Health and Disease in a Population from Nepal
Matthew P. Johnson, Suman S. Thapa, Sandra Laston, Kent L. Anderson, Bradford Towne, Janardan Subedi, John Blangero, Sarah Williams-Blangero

9. Genetic eye research in the Philippines
Patrick R. Ching, Edward Ryan A. Collantes, Michelle D. Lingao, Patricia E. Cabrera, Leo D. P. Cubillan

10. Hereditary Eye Disease in Ningxia Hui Autonomous Region of China
Weining Rong, Huiping Li, and Xunlun Sheng

11. Ophthalmic Genetics in India: From Tentative Beginnings in the 1980’s to Major Achievements in the Twenty-First Century
Govindasamy Kumaramanickavel and M. J. Denton

12. Panel-Based Next-Generation Sequencing for Inherited Retinal Degenerations in Koreans
Sang Jin Kim

13. Genetic Disease in Ophthalmology: Healthcare and Research Opportunity in Bangladesh
A. H. M. Enayet Hussain and Khaleda Islam

14. Update on the Japan Eye Genetics Consortium (JEGC)
Takeshi Iwata

15. Genetics and Susceptibility of Retinal Eye Diseases in India
Sunita Mohan, Uthra Satagopan, Soumittra Nagasamy, Sundaram Natarajan, and Govindasamy Kumaramanickavel

16. Unique Patient Populations in Asia for Genetic Eye Research
Himshikha Bhutani, Neel Kamal Sharma, and Akshay Anand

17. Retina Genes in Chinese
Jingna He, Wai Kit Chu, Li Ma, Calvin C. P. Pang, and Guy L. J. Chen

18. Leber Congenital Amaurosis in Asia
Sharola Dharmaraj, Anshuman Verma, P. Sundaresan, and Chitra Kannabiran

19. The Genetics of Inherited Retinal Diseases in the Israeli and Palestinian Populations: A Lesson from Populations with High Rates of Consanguinity
Mor Hanany and Dror Sharon

20. Occult Macular Dystrophy (Miyake’s Disease)
Kazushige Tsunoda

21. Clinical Genetics of Vitelliform Macular Dystrophy: An Asian Perspective
Sung Wook Park, Chang Ki Yoon, Dae Joong Ma, Un Chul Park, and Hyeong Gon Yu

22. Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Leber Hereditary Optic Neuropathy
Kunpeng Xie, Shuai Ming, Mingzhu Yang, Xuemin Jin, and Bo Lei

23. Stargardt Disease in Asian Population
Xiao Liu, Yu (Yokokawa) Fujinami, Lizhu Yang, Gavin Arno, Kaoru Fujinami

24. Retinoblastoma Genes in Chinese Studies
Bi Ning Zhang, Yuning Jiang, Wai Kit Chu, Winnie W. Y. Lau, Simon T. C. Ko, Kwong Wai Choy, Calvin C. P. Pang, Guy L. J. Chen, and Jason C. S. Yam

25. Genetics of Retinoblastoma: Basic Research and Clinical Applications
Usha Kim, K. Thirumalairaj, Aloysius Abraham, Shanthi Radhakrishnan, B. Devarajan, V. R. Muthukkaruppan, and A. Vanniarajan

26. Genotype-Phenotype Correlation in Retinal Degenerations
Sripriya Srivatsan, Mathavan Sinnakaruppan, Vikas Khetan, Sundaram Natarajan, Sangeetha Srinivasan, and Rajiv Raman

27. CYP1B1 Gene Mutation in Primary Congenital Glaucoma
Rita S. Sitorus

28. Diabetic Retinopathy: Clinical, Genetic, and Health Economics (An Asian Perspective)
Siddhita Nare, Sunita Mohan, Uthra Satagopan, Sundaram Natarajan, and Govindasamy Kumaramanickavel

29. Glaucoma Genes in East Asian Studies
Shi Yao Lu, Clement C. Y. Tham, Pancy O. S. Tam, Shisong Rong, Calvin C. P. Pang, Guy L. J. Chen, and Wai Kit Chu

30. Quantitative Trait for Glaucoma
Sarangapani Sripriya, Ferdina Sharmila, Suganya Kandeepan, and Ronnie George

31. Genetics of Exfoliation Syndrome in Asians
Prakadeeswari Gopalakrishnan, Aravind Haripriya, Banushree Ratukondla, and Periasamy Sundaresan

32. Proteomics of Neurodegenerative Disorders of the Eye
Kim Ramasamy, Krishnadas Ramasamy, Dharmalingam Kuppamuthu, and Jeye Maheshwari Jayapal

33. Genomic Approaches to Eye Diseases: An Asian Perspective
Bharanidharan Devarajan, Ayyasamy Vanniarajan, and Periasamy Sundaresan

34. Myopia Genes in Asians
Shumin Tang, Yu Meng Wang, Aziz K. Kam, Tommy C. Y. Chan, Calvin C. P. Pang, Jason C. S. Yam, and Gut L. J. Chen

35. Keratoconus Genes in Chinese
Yu Meng Wang, Ka Wai Kam, Tommy C. Y.Chan, Alvin L. Young, Vishal Jhanji, Guy L. J.Chen, and Calvin C. P. Pang

36. Granular Corneal Dystrophy Type 2: Prevalence in South Korea, Molecular Pathogenesis, and Therapeutic Approaches
Hun Lee, Seung-il Choi, Kyung Eun Han, Tae-im Kim, and Eung Kweon Kim

About the Editors

ESSENTIALS IN OPHTHALMOLOGY
SERIES EDITOR: Arun D. Singh

Advances in Vision Research Volume I
Genetics Eye Reseaerch in Asia and the Pacific
Editors: Gyan Prakash and Takeshi Iwata

The book - volume I is dedicated to the blind children of the world, their caregivers for the noble cause, and the vision researchers around the world who are finding the solutions to treat the blindness.

Foreward: Hugh R. Taylor, President of the World Ophthalmology Congress

Preface: Gyan Prakash & Takeshi Iwata

1. Foundation of Asian Eye Genetics Consortium (AEGC)
Gyan Prakash (USA), Takeshi Iwata (Japan)

2. Japan consortium for whole exome analysis of hereditary retinal diseases
Takeshi Iwata (Japan)

3. Whole-genome sequencing in genetic eye diseases in China
Zi-bing Jin (China)

4. Targeted exome sequencing in Japanese patients with Retinitis Pigmentosa
Maho Oishi (Japan), Akio Oishi (Japan), Nagahisa Yoshimura (Japan)

5. Genetic Epidemiology of Congenital Cataracts and Autosomal Recessive Retinal Degenerations in Pakistan
Fielding Hejtmancik (USA), Qiwei Wang (USA), Yabin Chen (USA), Sheikh Riazuddin (Pakistan) and S. Amer Riazuddin (USA)

6. Genetics of Cataract in Asia: An Overview of Research in Congenital and Age-Related Cataract with Emphasis on Indian Populations
Chitra Kannabiran (India) and Vanita (India)

7. Genetic analysis of families with retinal dystrophies
Qingjiong Zhang (China)

8. Whole genome sequencing in patients with Retinitis Pigmentosa
Koji M. Nishiguchi (Japan)

9. Retinitis pigmentosa in Korean patients
Hyeong Gon Yu, Un Chul Park, and Chang Ki Yoon (South Korea)

10. Retinitis pigmentosa in Chinese population
Ruifang Sui (China) and Xuan Zou (China)

11. Retinitis Pigmentosa in Japanese Population
Katsuhiro Hosono (Japan), Shinsei Minoshima (Japan), Yoshihiro Hotta (Japan)

12. Cone Dysfunction Syndrome in Japanese Population
Takaaki Hayashi (Japan)

13. Leber Congenital Amaurosis/Early-Onset Retinal Dystrophy in Japanese Population
Kazuki Kuniyoshi (Japan) and Yoshikazu Shimomura

14. Paradigm of Susceptibility genes in AMD and PCV
Paul N. Baird (Australia) and Moeen Riaz (Australia)

15. Genetics and Pathology of Inflammatory Components on AMD
Xiaoxin Li (China), Lv-Zhen Huang (China), Peng Zhou (China), and Chi Chao Chan (USA)

16. Genome wide association study of age-related eye diseases in Chinese population
Guy L.J. Chen (Hong Kong), Shi Song Rong (Hong Kong) and Calvin C.P. Pang (Hong Kong)

17. Clinical Genetics of Retinoblastoma: An Asian Perspective
Ashwin Mallipatna (India) and Meghan Marino (USA), and Arun Singh (USA)

18. Molecular and Clinical Genetics of Retinoblastoma
Jason C.S. Yam (Hong Kong), Winnie W. Y. Lau (Hong Kong), Wai Kit Chu (Hong Kong), L.J. Chen (Hong Kong), K. W. Choy, Simon T.C. and Calvin C.P. Pang (Hong Kong)

19. Current research Perspectives in Understanding Diabetic Retinopathy
A Jayamuruga Pandian, Nagasamy Soumittra, Rajiv Raman, Sarangapani Sripriya (India)

20. Genome-wide association studies of glaucoma
Zachary Dong (USA), Chiea Chuen Khor (Singapore) and Janey L. Wiggs (USA)

21. Genetic Complexity of Primary Angle Closure Glaucoma in Asians
Roopam Duvesh (India), R Venkatesh (India), S Kavitha (India), Pradeep Ramulu (USA), SR Krishnadas (India) and P Sundaresan (India)

22. Genotype-phenotype correlation for POAG in the Middle East
Khaled Abu-Amero (Saudi Arabia), Alta A. Kondkar, and Ahmed Mousa (Saudi Arabia)

23. Corneal Dystrophies in India
Namrata Sharma (India) and Arundhati Sharma (India)

24. Genetics of Corneal Endothelial Dystrophies: An Asian Perspective
Sudha Neelam (USA), Jod Mehta (USA), Eranga Vithana (USA), and Vinod Mootha (USA)

25. Keratoconus in Asia
Rajiv Mohan (USA), Arkasubhra Ghosh (India), and Rohit Shetty (India)

26. Genetics of Pediatric Eye Diseases and Strabismus in Asia
Zia Chaudhuri (India) and Birgit Lorenz (Germany)

27. Keratoconus: Globally and in the Middle East; Epidemiology, Genetics and future
Research
Ahmed Mousa (Saudi Arabia), Altaf Kondkar (Saudi Arabia) and Khaled Abu-Amero (Saudi Arabia)

28. Genetics of Myopia
Sushil Kumari Sangwan (India), Arundhati Sharma (India), Namrata Sharma (India), Radhika Tandon (India)

29. Ocular Implications of Gaucher Disease
Mones S. Abu-Asab (USA), Ian Y. L. Yeung (USA), Christopher Ardeljan (USA), Ashley N. Gonzalez (USA), Ellen Sidransky (USA), Chi-Chao Chan (USA)

30. Genetic background of Uveitis in Chinese population
Peiziang Yang (China), Hongsong Yu (China), Bo Lei (China), and Aize Kijlstra

31. Usher Syndrome in Chinese and Japanese Population
Shi-Ying Li (China), Linghui Qu (China), and Xiaohong Meng (China), and Zheng Qin Yin (China)

32. Homozygosity Mapping for Autosomal Recessive Ocular Diseases
Chandrasekar SatyaPriya, Sundaramoorthy Srilekha, Karthikeyan Sudha, Sarangapani Sripriya, Nagasamy Soumittra

33. Tools of Genetic Eye Research and Need for Clinical Research Collaborations
Vanita Vanita (India) and Umang Mathur (India)

34. Eye Genetics: The Road Ahead to Quality Standards
Sridhar Bammidi (India), Kaushal Sharma (India), Rahul Tyagi (India), Neel Kamal Sharma (India), and Akshay Anand (India)

35. Genetic Counselling in Asia
Viney Gupta(India) and Ken K. Nischal (USA)

36. Epigenetic study in Asian Eye Diseases
Lai Wei (China), Xiao Hu (China) and Xiafeng Wen (China)

37. Unique Asian Patients Population: An Opportunity for Drug Development
Rajkumar Patil (Singapore), Cheng Ching Yu (Singapore), Chui Ming Gemmy Cheung (Singapore) and Tien Yin Wong (Singapore)

38. A Perspective: How can gene therapeutics help address ophthalmic health issues in Asia?
Paul Kaufman (USA)

About the Editors