Ng Qin Xiang, Chan Hwei Wuen, Koh Gerald Choon Huat
Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
SingHealth Duke-NUS Global Health Institute, Duke-NUS Medical School, Singapore, Singapore.
J Community Genet. 2025 Apr 29. doi: 10.1007/s12687-025-00796-1.
Retinitis pigmentosa (RP) is a progressive retinal disorder that affects the emotional, psychological, and social lives of those afflicted. With limited effective treatments, understanding the personal challenges faced by individuals with RP is essential for developing holistic care strategies. Informed by a critical realist epistemology, posts and comments from two central subreddit threads with at least 30 comments each were extracted and analyzed using Braun and Clarke's reflexive thematic analysis. A total of 69 posts from 36 unique commenters were coded, and themes were derived through team discussions and an iterative process to identify recurring patterns in the data. Three key themes were identified: (1) navigating grief and loss, reflecting the emotional toll of progressive vision loss and the associated loss of independence and cherished activities; (2) establishing independence through coping mechanisms, which involved using technology, adapting hobbies, and emotional resilience to manage the impacts of RP; and (3) maintaining a delicate balance between hope and frustration with treatments, highlighting participants' mixed feelings toward emerging therapies like gene therapy and their perceived efficacy. In summary, the findings underscore the complex psychological and emotional challenges faced by individuals with RP and the need for more holistic care services. Understanding these experiences is crucial for healthcare providers, policymakers, and researchers to better support the RP community. Future research should focus on the psychological impacts of RP, the effectiveness of coping strategies, and outcomes of supportive interventions to enhance the quality of life of those affected.
视网膜色素变性（RP）是一种进行性视网膜疾病，会影响患者的情感、心理和社会生活。由于有效治疗方法有限，了解RP患者面临的个人挑战对于制定全面的护理策略至关重要。基于批判实在论的认识论，从两个Reddit核心主题帖中提取了至少各有30条评论的帖子和评论，并使用布劳恩和克拉克的反思性主题分析法进行分析。对来自36位不同评论者的69篇帖子进行了编码，并通过团队讨论和迭代过程得出主题，以识别数据中反复出现的模式。确定了三个关键主题：（1）应对悲伤和失落，反映了渐进性视力丧失以及随之而来的独立性丧失和珍视活动丧失所带来的情感代价；（２）通过应对机制建立独立性，这包括使用技术、调整爱好以及增强情感韧性来应对RP的影响；（3）在对治疗的希望和挫折之间保持微妙平衡，突出了参与者对基因治疗等新兴疗法的复杂感受及其感知疗效。总之，研究结果强调了RP患者面临的复杂心理和情感挑战以及对更全面护理服务的需求。了解这些经历对于医疗保健提供者、政策制定者和研究人员更好地支持RP患者群体至关重要。未来的研究应关注RP的心理影响、应对策略的有效性以及支持性干预措施的效果，以提高受影响者的生活质量。
