Ng Qin Xiang, Chan Hwei Wuen, Lim Raymond Boon Tar, Koh Gerald Choon Huat
Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore; SingHealth Duke-NUS Global Health Institute, Singapore.
NUS Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Department of Ophthalmology, National University Hospital, Singapore.
Disabil Health J. 2025 Jul;18(3):101819. doi: 10.1016/j.dhjo.2025.101819. Epub 2025 Mar 1.
Inherited retinal diseases (IRDs) are a heterogeneous group of genetic disorders that progressively impair vision, affecting millions globally. Despite advancements in gene therapy, treatment options remain limited. The impact of IRDs on patients' psychological and social well-being, however, remains underexplored, especially in Asia.
This study investigates the lived experiences of working-age adults in Singapore with IRDs, focusing on how the condition influences their identity, social engagement, and coping mechanisms.
Following the traditions of Interpretative Phenomenological Analysis (IPA) and informed by the theories of biographical disruption and embodiment, semi-structured interviews were conducted with six adults (aged 21-65 years old) formally diagnosed with IRDs. Participants were recruited through a genetic eye service, and in-depth, one-on-one interviews explored the impact of diagnosis, occupational and social lives, coping strategies, and future outlook. Transcripts were analyzed to identify key experiential themes.
Four major themes emerged: (1) Embodied Experience - Navigating a Shifting Relationship with the Body, (2) The Self in Flux - Redefining Identity and Purpose, (3) Social Negotiations - Visibility, Invisibility, and Stigma, and (4) Coping and Resilience - Strategies for Adapting to Uncertainty. Participants described ongoing negotiations of self-identity, perceived social stigma, and internal struggles with acceptance of their conditions, amidst their faltering visual abilities and blending efforts to adapt to progressive vision loss.
Vision loss profoundly affects individuals' bodies, identities and social engagement. The findings emphasize holistic care that incorporates genetic and psychological counseling, along with public education initiatives to reduce stigma and support individuals in maintaining their independence.
遗传性视网膜疾病（IRDs）是一组异质性的遗传疾病，会逐渐损害视力，全球数百万人受其影响。尽管基因治疗取得了进展，但治疗选择仍然有限。然而，IRDs对患者心理和社会福祉的影响仍未得到充分探索，尤其是在亚洲。
本研究调查了新加坡患有IRDs的工作年龄成年人的生活经历，重点关注该疾病如何影响他们的身份认同、社会参与和应对机制。
遵循解释现象学分析（IPA）的传统，并以传记中断和体现理论为指导，对六名正式诊断为IRDs的成年人（年龄在21 - 65岁之间）进行了半结构化访谈。通过遗传眼科服务招募参与者，深入的一对一访谈探讨了诊断的影响、职业和社会生活、应对策略以及未来展望。对访谈记录进行分析以确定关键的体验主题。
出现了四个主要主题：（1）身体体验——应对与身体不断变化的关系，（2）变化中的自我——重新定义身份和目标，（3）社会协商——可见性、不可见性和耻辱感，以及（4）应对与恢复力——适应不确定性的策略。参与者描述了在视力逐渐衰退以及努力适应渐进性视力丧失的过程中，持续进行的自我身份认同协商、感知到的社会耻辱感以及接受自身状况的内心挣扎。
视力丧失深刻影响个人的身体、身份认同和社会参与。研究结果强调了综合护理，包括遗传和心理咨询，以及开展公共教育活动以减少耻辱感并支持个人保持独立。
