Ng Qin Xiang, Tang Ansel Shao Pin, Chan Kai En, Chan Hwei Wuen, Howard Natasha, Koh Gerald Choon Huat
Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore; Health Services Research Unit, Singapore General Hospital, Singapore.
NUS Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Disabil Health J. 2025 Jul;18(3):101826. doi: 10.1016/j.dhjo.2025.101826. Epub 2025 Mar 22.
Inherited retinal diseases (IRDs) are a heterogeneous group of genetic disorders, and a leading cause of vision impairment or blindness, affecting millions worldwide. Despite advances in understanding its phenotype, the physical and psychological impacts of IRDs on patients and their families and caregivers remain underexplored.
This review thus aimed to summarize the existing literature in this area.
Following PRISMA guidelines and using search terms such as "inherited retinal disease", "psychological impact", "social impact", and "qualitative research", a systematic search was conducted across PubMed Central, EMBASE, Scopus, and PsycINFO databases up to February 29, 2024, for qualitative studies on the impact of IRDs. The findings were then synthesized narratively to provide a cohesive interpretation.
A total of 20 studies involving 474 participants across six countries (Australia, Belgium, Italy, Sweden, the UK, and the US) were included. Key themes included the significant impact on daily living and independence, work and professional life, coping strategies and resilience, and the emotional burden on families and caregivers. Genetic testing and its implications (reproductive decisions and insurance discrimination) also emerged as an area of concern. IRDs profoundly affect patients and their families and caregivers, influencing daily life, well-being, and societal participation.
Despite the challenges, resilience and adaptability are prominent, and the findings emphasize the need for comprehensive care that includes psychological support, work adjustments and policies that address the needs of this population. Understanding these quality-of-life issues and areas of unmet need is relevant for healthcare providers, policymakers, and researchers globally.
遗传性视网膜疾病（IRDs）是一组异质性的遗传疾病，是视力损害或失明的主要原因，影响着全球数百万人。尽管在了解其表型方面取得了进展，但IRDs对患者及其家庭和照顾者的身体和心理影响仍未得到充分探索。
因此，本综述旨在总结该领域的现有文献。
遵循PRISMA指南，使用“遗传性视网膜疾病”、“心理影响”、“社会影响”和“定性研究”等搜索词，在截至2024年2月29日的PubMed Central、EMBASE、Scopus和PsycINFO数据库中进行系统搜索，以查找关于IRDs影响的定性研究。然后对研究结果进行叙述性综合，以提供连贯的解释。
共纳入了涉及六个国家（澳大利亚、比利时、意大利、瑞典、英国和美国）474名参与者的20项研究。关键主题包括对日常生活和独立性、工作和职业生活、应对策略和恢复力的重大影响，以及对家庭和照顾者的情感负担。基因检测及其影响（生殖决策和保险歧视）也成为一个令人关注的领域。IRDs对患者及其家庭和照顾者产生了深远影响，影响着日常生活、幸福感和社会参与。
尽管存在挑战，但恢复力和适应能力很突出，研究结果强调需要提供全面的护理，包括心理支持、工作调整以及满足这一人群需求的政策。了解这些生活质量问题和未满足需求的领域对全球医疗保健提供者、政策制定者和研究人员都具有重要意义。
