Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network.
Journal
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
Journal Volume
13
Journal Issue
5
Start Page
100098
ISSN
2162-0989
Date Issued
2024
Author(s)
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
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
Abstract
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.
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.
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.
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.
Subjects
Genetic counselling
Genotyping
Inherited retinal disease
Low-vision rehabilitation
Phenotyping
SDGs
Type
journal article