Title: Quality of life in inherited retinal dystrophies
Abstract:
Inherited retinal dystrophies (IRDs) are a leading cause of visual impairment in people aged 15–45 years, affecting an estimated 5.5 million people worldwide, predominantly through retinitis pigmentosa. As gene and other disease-modifying therapies enter clinical practice, patient-reported outcomes are increasingly needed to demonstrate treatment value to clinicians, patients and payers, yet the quality-of-life (QoL) evidence base in IRDs had not previously been systematically synthesised. This review characterises vision-specific, generic, psychological, socioeconomic and lived-experience QoL outcomes in patients with confirmed IRDs.
Studies were eligible if they enrolled confirmed IRD patients, aimed primarily to assess QoL, were primary research of any design, and were published in English. A two-phase search of PubMed, Scopus, Web of Science, Cochrane Library, EMBASE and OpenGrey (2010–2026) followed PRISMA 2020 guidance, with risk of bias assessed using design-specific Joanna Briggs Institute critical appraisal tools. Given heterogeneity of study designs and outcome measures, findings were synthesised narratively rather than by meta-analysis.
Twenty-two studies, comprising more than 2,900 participants across 15 countries, were included: 13 cross-sectional, 7 qualitative, 1 longitudinal cohort and 1 mixed-methods study. Vision-specific QoL, most often measured using the NEI VFQ-25/39 (7 studies), was consistently and substantially reduced compared with controls (scores 42.0–68.4 versus 90–95), with visual field loss, rather than visual acuity, the strongest correlate of impairment. Psychological morbidity was elevated across all nine studies using validated instruments, with depression and anxiety several-fold more prevalent than in the general population. Employment and financial impact were substantial across eight studies, with unemployment and early-retirement rates far exceeding national averages. By contrast, generic health-utility instruments were repeatedly insensitive to IRD-related visual impairment across three independent studies. Qualitative synthesis of eight studies identified recurrent themes of symptom burden, functional limitation and psychosocial adaptation, alongside an unmet need for structured support. No study reported quality-adjusted life-year (QALY) data.
IRDs impose a substantial, multi-dimensional burden on quality of life that extends beyond visual function to psychological, occupational and social domains, and which may be underestimated by the generic health-utility measures currently used in economic evaluation. Development of an IRD-specific patient-reported outcome measure, robust QALY methodology, and longitudinal, cross-culturally representative research are priorities as disease-modifying therapies enter clinical practice.
