Lived experiences of patients, families and caregivers affected by inherited retinal diseases: A qualitative systematic review

Background: 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.

Objective: This review thus aimed to summarize the existing literature in this area.

Methods: 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.

Results: 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.

Conclusions: 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.