Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network.
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Wong Wendy M, Tham Yih Chung, Ayton Lauren N, Britten-Jones Alexis Ceecee, Edwards Thomas L, Grigg John, Simunovic Matthew P, Chen Fred K, Jin Zi-Bing, Shen Ren-Juan, Sui Ruifang, Yang Liping, Zhao Chen, Chen Haoyu, Li Shiying, Ding Xiaoyan, Bhende Muna, Raman Rajiv, Sen Parveen, Poornachandra B, Chia Valen, Manurung Florence, Sasongko Muhammad Bayu, Ikeda Hanako, Fujinami Kaoru, Woo Se Joon, Kim Sang Jin, Bastion Mae-Lynn Catherine, Kamalden Ain Tengku, Lott Penny P, Fong Kenneth, Shunmugam Manoharan, Lim Amelia, Thapa Raba, Ibañez B Manuel Benjamin, Koh Adrian, Holder Graham E, Su Xinyi, Chan Choi Mun, Fenner Beau J, Laude Augustinus, Ngo Wei Kiong, Chen Ta-Ching, Wang Nan-Kai, Kang Eugene Yu-Chuan, Surawatsatien Nuntachai, Pisuchpen Phattrawan, Sujirakul Tharikarn, Wongchaisuwat Nida, Apivatthakakul Atitaya, Kumaramanickavel Govindasamy, Leroy Bart, Michaelides Michel, Pontikos Nikolas, Cheng Ching-Yu, Pang Chi Pui, Chen Li Jia, Chan Hwei Wuen
Аннотация
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.