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Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network

Wong WM 1 , Tham YC 2 , Ayton LN 3 , Britten-Jones AC 3 , Edwards TL 3 , Grigg J 4 Show all authors , Simunovic MP 4 , Chen FK 5 , Jin ZB 6 , Shen RJ 6 , Sui R 7 , Yang L 8 , Zhao C 9 , Chen H 10 , Li S 11 , Ding X 12 , Bhende M 13 , Raman R 13 , Sen P 14 , Poornachandra B 15 , Chia V 16 , Manurung F 17 , Sasongko MB 17 , Ikeda H 18 , Fujinami K 19 , Woo SJ 20 , Kim SJ 21 , Bastion MC 22 , Kamalden AT 23 , Lott PP 24 , Fong K 24 , Shunmugam M 25 , Lim A 25 , Thapa R 26 , Ibañez BMB 27 , Koh A 28 , Holder GE 1 , Su X 29 , Chan CM 30 , Fenner BJ 30 , Laude A 31 , Ngo WK 32 , Chen TC 33 , Wang NK 34 , Kang EY 34 , Surawatsatien N 35 , Pisuchpen P 36 , Sujirakul T 37 , Wongchaisuwat N 38 , Apivatthakakul A 39 , Kumaramanickavel G 40 , Leroy B 41 , Michaelides M 42 , Pontikos N 42 , Cheng CY 43 , Pang CP 44 , Chen LJ 45 , Chan HW 46

Affiliations 

  • 1 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
  • 2 Centre for Innovation & Precision Eye Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
  • 3 Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia; Department of Optometry and Vision Sciences and Department of Surgery (Ophthalmology), University of Melbourne, Melbourne, Victoria, Australia
  • 4 Save Sight Institute, The University of Sydney, Sydney, Australia; Sydney Eye Hospital, Sydney, Australia
  • 5 Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia; Centre for Ophthalmology and Visual Science (Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia
  • 6 Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, China
  • 7 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
  • 8 Department of Ophthalmology, Peking University Third Hospital, Beijing, China; Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Peking University Third Hospital, Beijing, China
  • 9 Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China
  • 10 Joint Shantou International Eye Center, Shantou University & The Chinese University of Hong Kong, Shantou, China
  • 11 Department of Ophthalmology, the First Affiliated Hospital of Xiamen University, School of Medicine, Eye Institute of Xiamen University, Xiamen, Fujian, China
  • 12 Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China
  • 13 Shri Bhagwan Mahavir Vitreoretinal services, Medical Research Foundation, Sankara Nethralaya, Chennai, India
  • 14 Shri Bhagwan Mahavir Vitreoretinal services, Medical Research Foundation, Sankara Nethralaya, Chennai, India; Dr Agarwal Eye Hospital, Chandigarh, India
  • 15 Vitreo-Retina Services, Narayana Nethralaya, Bengaluru, India
  • 16 JEC Eye Hospitals and Clinics, Jakarta, Indonesia
  • 17 Department of Ophthalmology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada - Sardjito Eye Center, Dr. Sardjito General Hospital, Yogyakarta, Indonesia
  • 18 Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan
  • 19 Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan
  • 20 Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea
  • 21 Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
  • 22 Department of Ophthalmology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Center, Kuala Lumpur, Malaysia; Hospital Canselor Tuanku Muhriz, Jalan Yaacob Latif, Bandar Tun Razak, Kuala Lumpur, Malaysia
  • 23 UM Eye Research Centre, Department of Ophthalmology, Universiti Malaya, Kuala Lumpur, Malaysia
  • 24 OasisEye Specialists, Kuala Lumpur, Malaysia
  • 25 Ophthalmology, Penang Gleneagles, Malaysia
  • 26 Tilganga Institute of Ophthalmology, Kathmandu, Nepal
  • 27 Makati Medical Center, Makati City, the Philippines; DOH Eye Center, East Avenue Medical Center, Quezon City, the Philippines
  • 28 Eye & Retina Surgeons, Camden Medical Centre, Singapore
  • 29 Singapore National Eye Centre, Singapore Eye Research Institute, Singapore; Ophthalmology & Visual Sciences Academic Clinical Program (EYE ACP), Duke-NUS Medical School, Singapore
  • 30 Ophthalmology & Visual Sciences Academic Clinical Program (EYE ACP), Duke-NUS Medical School, Singapore; National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore
  • 31 National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore
  • 32 Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore
  • 33 Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan; Center of Frontier Medicine, National Taiwan University Hospital, Taipei, Taiwan
  • 34 Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan; Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, Columbia University, New York, NY, USA
  • 35 Center of Excellence in Retina, Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand
  • 36 Department of Ophthalmology and Division of Academic Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
  • 37 Department of Ophthalmology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • 38 Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
  • 39 Department of Ophthalmology, Faculty of Medicine, Chiangmai University, Chiangmai, Thailand
  • 40 Narayana Nethralaya, Narayana Health City, Bengaluru, Karnataka, India
  • 41 Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  • 42 Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom
  • 43 Centre for Innovation & Precision Eye Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore
  • 44 Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
  • 45 The Chinese University of Hong Kong, Hong Kong, China
  • 46 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. Electronic address: ophchw@nus.edu.sg
Asia Pac J Ophthalmol (Phila), 2024;13(5):100098.
PMID: 39366638 DOI: 10.1016/j.apjo.2024.100098

Abstract

PURPOSE: The objective of this paper is to shed light on the current landscape of genotyping practices, phenotyping practices and availability of essential vision rehabilitation management for inherited retinal diseases (IRD) in the Asia-Pacific (APAC) Region.

METHODS: The 62-item questionnaire was distributed electronically via email. The questions covered five domains: (1) structure of the IRD service and registry/database; (2) genotyping practices; (3) genetic counselling; (4) deep phenotyping practices; (5) low-vision rehabilitation services.

RESULTS: The survey was completed by 36 of 45 centres in twelve countries and regions in APAC. Among these centres, 42 % reported managing more than 1000 patients. Notably, 39 % of centres lack an IRD database or registry, and 44 % of centres have tested less than one-quarter of their IRD patients. The majority of centres (67 %) do not have genetic counsellors. While there was consistency in the imaging-based investigations, there was marked heterogeneity for functional testing using electrophysiology and formal perimetry. Only 34 % of centres confirmed the availability of access to low-vision assistive devices.

CONCLUSIONS: This study reveals several critical gaps in managing IRDs in the APAC region. These include the lack of IRD database/registry in one-third of centres, a substantial proportion of patients remaining genetically undiagnosed, and limited availability of genetic counsellors. The findings also underscore a need to harmonise investigations for evaluating retinal function and identify areas for improvement in the provision of low-vision rehabilitation services.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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