Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases

作     者：Wong, Wendy M. Tham, Yih Chung Simunovic, Matthew P. Chen, Fred Kuanfu Luu, Chi D. Chen, Haoyu Jin, Zi-Bing Shen, Ren-Juan Li, Shiying Sui, Ruifang Zhao, Chen Yang, Liping Bhende, Muna Raman, Rajiv Sen, Parveen Ghosh, Arkasubhra Poornachandra, B. Sasongko, Muhammad Bayu Arianti, Alia Chia, Valen Mangunsong, Cosmos O. Manurung, Florence Fujinami, Kaoru Ikeda, Hanako Woo, Se Joon Kim, Sang Jin Mohd Khialdin, Safinaz Othman, Othmaliza Bastion, Mae-Lynn Catherine Kamalden, Ain Tengku Lott, Pooi Wah Penny Fong, Kenneth Shunmugam, Manoharan Lim, Amelia Thapa, Raba Pradhan, Eli Rajkarnikar, Sthapit Purnima Adhikari, Srijana Ibañez, B.Manuel Benjamin IV Koh, Adrian Chan, Choi Mun M. Fenner, Beau J. Tan, Tien-En Laude, Augustinus Ngo, Wei Kiong Holder, Graham E. Su, Xinyi Chen, Ta-Ching Wang, Nan-Kai Kang, Eugene Yu-Chuan Huang, Chu-Hsuan Surawatsatien, Nuntachai Pisuchpen, Phattrawan Sujirakul, Tharikarn Kumaramanickavel, Govindasamy Singh, Mandeep Leroy, Bart Michaelides, Michel Cheng, Ching-Yu Chen, Li Jia Chan, Hwei Wuen 

作者机构：Centre for Innovation & Precision Eye Health Yong Loo Lin School of Medicine National University of Singapore Singapore Department of Ophthalmology National University Hospital National University Health System Singapore Department of Ophthalmology Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore Save Sight Institute The University of Sydney Sydney Australia Retinal Unit Sydney Eye Hospital Sydney Australia Centre for Ophthalmology and Visual Science (Lions Eye Institute) The University of Western Australia Nedlands WA Australia Centre for Eye Research Australia Royal Victorian Eye and Ear Hospital East Melbourne VIC Australia Ophthalmology Department of Surgery University of Melbourne East Melbourne VIC Australia Joint Shantou International Eye Center Shantou University & The Chinese University of Hong Kong Shantou China Beijing Institute of Ophthalmology Beijing Tongren Eye Center Beijing Tongren Hospital Capital Medical University Beijing Ophthalmology & Visual Sciences Key Laboratory Beijing China Department of Ophthalmology in Xiang'an Hospital of Xiamen University and Medical Center of Xiamen University School of Medicine in Xiamen University Eye Institute of Xiamen University Fujian Provincial Key Laboratory of Ophthalmology and Visual Science Fujian Engineering and Research Center of Eye Regenerative Medicine Fujian Xiamen China Department of Ophthalmology State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital Chinese Academy of Medical Sciences Peking Union Medical College No. 1 Shuai Fu Yuan Beijing China Eye Institute and Department of Ophthalmology Eye & ENT Hospital Fudan University Shanghai China Department of Ophthalmology Peking University Third Hospital Beijing China Beijing Key Laboratory of Restoration of Damaged Ocular Nerve Peking University Third Hospital Beijing China Shri Bhagwan Mahavir Vitreoretinal services Medical Research Foundation Sankara Nethralaya Chennai India Dr Agarwal Eye Hospital Chandigarh India GROW Lab Narayana Nethralaya Foundation Karnataka Bangalore India Vitreo-Retina Services Narayana Nethralaya Bangalore India Department of Ophthalmology Faculty of Medicine Public Health and Nursing Universitas Gadjah Mada - Sardjito Eye Center Dr. Sardjito General Hospital Yogyakarta Indonesia JEC Eye Hospitals and Clinics Jakarta Indonesia Laboratory of Visual Physiology Division of Vision Research National Institute of Sensory Organs NHO Tokyo Medical Center Tokyo Japan Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine Sakyo-ku Kyoto Japan Department of Ophthalmology Seoul National University College of Medicine Seoul National University Bundang Hospital Seongnam South Korea Department of Ophthalmology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul South Korea Department of Ophthalmology Faculty of Medicine Universiti Kebangsaan Malaysia Medical Center Kuala Lumpur Malaysia UKM Specialist Children's Hospital Kuala Lumpur Malaysia Hospital Canselor Tuanku Muhriz Jalan Yaacob Latif Bandar Tun Razak Kuala Lumpur Malaysia UM Eye Research Centre Department of Ophthalmology Universiti Malaya Kuala Lumpur Malaysia OasisEye Specialists Kuala Lumpur Malaysia Ophthalmology Penang Gleneagles Malaysia Tilganga Institute of Ophthalmology Kathmandu Nepal Makati Medical Center Makati City Philippines DOH Eye Center East Avenue Medical Center Quezon City Philippines Eye & Retina Surgeons Camden Medical Centre Singapore Singapore Singapore National Eye Centre Singapore Eye Research Institute Singapore Ophthalmology & Visual Sciences Academic Clinical Program (EYE ACP) Duke-NUS Medical School Singapore National Healthcare Group Eye Institute Tan Tock Seng Hospital Singapore Singapore Lee Kong Chian School of Medicine Nanyang Technological University Singapore Singapore Department of Ophthalmology National Taiwan University Hospital Taipei Taiwan Center of Frontier Medicine National Taiwan University Hospital Taipei Taiwan Department of Ophthalmology Edward S. Harkness Eye Institute Columbia University New York NY United States Department of Ophthalmology Chang Gung Memorial Hospital Linkou Medical Center Taoyuan Taiwan Graduate Institute of Clinical Medical Sciences College of Medicine Chang Gung University Taoyuan Taiwan Department of Ophthalmology Cathay General Hospital Taipei Taiwan Center of Excellence in Retina Department of Ophthalmology Faculty of Medicine Chulalongkorn University and King Chulalongkorn Memorial Hospital Bangkok Thailand Department of Ophthalmology and Division of Academic Affairs Faculty of Medicine Chulalongkorn University Bangkok Thailand Department of Ophthalmology Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand Narayana Nethralaya Narayana Health City Karnataka Bengaluru India Wilmer Eye Institute Johns Hopkins Hospital Baltimore 21287 MD United States Center for Medical Genetics Ghent University Hospital Ghent Belgium Department of Ophthalmology Ghent University Hospital Ghent Belgium Moorfields Eye Hospital London United Kingdom and UCL Institute of Ophthalmology University College London London United Kingdom Department of Ophthalmology and Visual Sciences The Chinese University of Hong Kong Hong Kong 

出 版 物：《Asia-Pacific Journal of Ophthalmology》 (Asia-Pacific J. Ophthalmol.)

年 卷 期：2024年第13卷第1期

页      面：100030-100030页

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

基　　金：National Medical Research Council, NMRC , (22K09789) 

主　　题：Asia-Pacific Deep Phenotyping Disease Registries Inherited Retinal Diseases Ophthalmic Genetics 

摘      要：Purpose: There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world s population. Therefore, a concerted regional effort is urgently needed to close this critical knowledge gap and apply precision medicine technology to improve the quality of lives of these patients in the Asia-Pacific region. Design: Multi-national, multi-center collaborative network. Methods: The Research Standing Committee of the Asia-Pacific Academy of Ophthalmology and the Asia-Pacific Society of Eye Genetics fostered this research collaboration, which brings together renowned institutions and experts for inherited eye diseases in the Asia-Pacific region. The immediate priority of the network will be inherited retinal diseases (IRDs), where there is a lack of detailed characterization of these conditions and in the number of established registries. Results: The network comprises 55 members from 35 centers, spanning 12 countries and regions, including Australia, China, India, Indonesia, Japan, South Korea, Malaysia, Nepal, Philippines, Singapore, Taiwan, and Thailand. The steering committee comprises ophthalmologists with experience in consortia for eye diseases in the Asia-Pacific region, leading ophthalmologists and vision scientists in the field of IRDs internationally, and ophthalmic geneticists. Conclusions: The Asia Pacific Inherited Eye Disease (APIED) network aims to (1) improve genotyping capabilities and expertise to increase early and accurate genetic diagnosis of IRDs, (2) harmonise deep phenotyping practices and utilization of ontological terms, and (3) establish high-quality, multi-user, federated disease registries that will facilitate patient care, genetic counseling, and research of IRDs regionally and internationally. © 2023 The Authors