This book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book's editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

Autorentext

Dr. Gyan Prakash, Director, Office of International Program Activities, National Eye Institute-NIH, Bethesda, MD, USA

Dr. Takeshi Iwata, Director, Molecular and Cellular Biology Division, National Institute of Sensory Organs, Tokyo Medical Center, National Hospital Organization, Tokyo, JAPAN

Inhalt

1. Foundation of Asian Eye Genetics Consortium (AEGC) (Gyan Prakash, Takeshi Iwata).- 2. Japan consortium for whole exome analysis of hereditary retinal diseases (Takeshi Iwata).- 3. Whole-genome sequencing in genetic eye diseases in China (Zi-bing Jin).- 4. Targeted exome sequencing in Japanese patients with Retinitis Pigmentosa (Maho Oishi, Akio Oishi, Nagahisa Yoshimura).- 5. Genetic Epidemiology of Congenital Cataracts and Autosomal Recessive Retinal Degenerations in Pakistan (Fielding Hejtmancik, Qiwei Wang, Yabin Chen, Sheikh Riazuddin and S. Amer Riazuddin).- 6. Genetics of Cataract in Asia (Chitra Kannabiran and Vanita).- 7. Genetic analysis of families with retinal dystrophies (Qingjiong Zhang).- 8. Whole genome sequencing in patients with Retinitis Pigmentosa (Koji M. Nishiguchi).- 9. Retinitis pigmentosa in Korean patients (C.K. Yoon, U.C. Park and H.G. Yu).- 10. Retinitis pigmentosa in Chinese population (Ruifang Sui and Xuan Zou).- 11. Retinitis Pigmentosa in Japanese Population (Katsuhiro Hosono, Shinsei Minoshima, Yoshihiro Hotta).- 12. Cone Dysfunction Syndrome in Japanese Population (Takaaki Hayashi).- 13. Leber Congenital Amaurosis/Early-Onset Retinal Dystrophy in Japanese Population (Kazuki Kuniyoshi and Yoshikazu Shimomura).- 14. Paradigm of Susceptibility genes in AMD and PCV (Paul N. Baird and Moeen Riaz).- 15. Genetics and Pathology of Inflammatory Components on AMD (Xiaoxin Li, Lv-Zhen Huang, Peng Zhou and Chi Chao Chan).- 16. Genome wide association study of age-related eye diseases in Chinese population (Guy L.J. Chen, Shi Song Rong and Calvin C.P. Pang).- 17. Clinical Genetics of Retinoblastoma: An Asian Perspective (Ashwin Mallipatna and Meghan Marino and Arun Singh).- 18. Molecular and Clinical Genetics of Retinoblastoma (Jason C.S. Yam, Winnie W. Y. Lau, Wai Kit Chu, L.J. Chen, K. W. Choy, Simon T.C. and Calvin C.P. Pang).- 19. Current research Perspectives in Understanding Diabetic Retinopathy (A Jayamuruga Pandian, Nagasamy Soumittra, Rajiv Raman, Sarangapani Sripriya).- 20. Genome-wide association studies of glaucoma (Zachary Dong, Chiea Chuen Khor and Janey L. Wiggs).- 21. Genetic Complexity of Primary Angle Closure Glaucoma in Asians (Roopam Duvesh, R Venkatesh, S Kavitha, Pradeep Ramulu, SR Krishnadas and P Sundaresan).- 22. Genotype-phenotype correlation for POAG in the Middle East Khaled Abu-Amero (Saudi Arabia), Alta (A. Kondkar and Ahmed Mousa).- 23. Corneal Dystrophies in India (Namrata Sharma and Arundhati Sharma).- 24. Genetics of Corneal Endothelial Dystrophies: An Asian Perspective (Sudha Neelam, Jod Mehta, Eranga Vithana and Vinod Mootha).- 25. Keratoconus in Asia (Rajiv Mohan, Arkasubhra Ghosh and Rohit Shetty).- 26. Genetics of Pediatric Eye Diseases and Strabismus in Asia (Zia Chaudhuri and Birgit Lorenz).- 27. Keratoconus: Globally and in the Middle East; Epidemiology, Genetics and future Research (Ahmed Mousa, Altaf Kondkar and Khaled Abu-Amero).- 28. Genetics of Myopia (Sushil Kumari Sangwan,Arundhati Sharma, Namrata Sharma, Radhika Tandon).- 29. Ocular Implications of Gaucher Disease (Mones S. Abu-Asab, Ian Y. L. Yeung, Christopher Ardeljan, Ashley N. Gonzalez, Ellen Sidransky, Chi-Chao Chan).- 30. Genetic background of Uveitis in Chinese population (Peiziang Yang, Hongsong Yu, Bo Lei and Aize Kijlstra).- 31. Usher Syndrome in Chinese and Japanese Population (Shi-Ying Li, Linghui Qu, and Xiaohong Meng, and Zheng Qin Yin).- 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 and Umang Mathur).- 34. Eye Genetics: The Road Ahead to Quality Standards (Sridhar Bammidi, Kaushal Sharma, Rahul Tyagi, Neel Kamal Sharma and Akshay Anand).- 35. Genetic Counselling in Asia (Viney Gupta and Ken K. Nischal).- 36. Epigenetic study in Asian Eye Diseases (Lai Wei, XiaoHu and Xiafeng Wen).- 37. Unique Asian Patients Population: An Opportunity for Drug Development (Rajkumar Patil, Cheng Ching Yu, Chui Ming Gemmy Cheung and Tien Yin Wong.- 38. A Perspective: How can gene therapeutics help address ophthalmic health issues in Asia? (Paul Kaufman).