Wong, Wendy M. and Tham, Yih Chung and Ayton, Lauren N. and Britten-Jones, Alexis Ceecee and Edwards, Thomas L. and Grigg, John and Simunovic, Matthew P. and Chen, Fred K. and Jin, Zi-Bing and Shen, Ren-Juan and Sui, Ruifang and Yang, Liping and Zhao, Chen and Chen, Haoyu and Li, Shiying and Ding, Xiaoyan and Bhende, Muna and Raman, Rajiv and Sen, Parveen and Poornachandra, B. and Chia, Valen and Manurung, Florence and Sasongko, Muhammad Bayu and Ikeda, Hanako and Fujinami, Kaoru and Woo, Se Joon and Kim, Sang Jin and Bastion, Mae-Lynn Catherine and Kamalden, Ain Tengku and Lott, Penny P. and Fong, Kenneth and Shunmugam, Manoharan and Lim, Amelia and Thapa, Raba and Ibanez, B. Manuel Benjamin and Koh, Adrian and Holder, Graham E. and Su, Xinyi and Chan, Choi Mun and Fenner, Beau J. and Laude, Augustinus and Ngo, Wei Kiong and Chen, Ta-Ching and Wang, Nan-Kai and Kang, Eugene Yu-Chuan and Surawatsatien, Nuntachai and Pisuchpen, Phattrawan and Sujirakul, Tharikarn and Wongchaisuwat, Nida and Apivatthakakul, Atitaya and Kumaramanickavel, Govindasamy and Leroy, Bart and Michaelides, Michel and Pontikos, Nikolas and Cheng, Ching-Yu and Pang, Chi Pui and Chen, Li Jia and Chan, Hwei Wuen (2024) Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network. Asia-Pacific Journal of Ophthalmology, 13 (5). p. 100098. ISSN 2162-0989, DOI https://doi.org/10.1016/j.apjo.2024.100098.
Full text not available from this repository.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.
| Item Type: | Article |
|---|---|
| Funders: | UNSPECIFIED |
| Uncontrolled Keywords: | Inherited retinal disease; Genotyping; Genetic counselling; Phenotyping; Low-vision rehabilitation |
| Subjects: | R Medicine > RE Ophthalmology |
| Divisions: | Faculty of Medicine > Department of Ophthalmology |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 13 Feb 2025 01:12 |
| Last Modified: | 13 Feb 2025 01:12 |
| URI: | http://eprints.um.edu.my/id/eprint/47487 |
Actions (login required)
 |
View Item |
