Patient-Reported Health-Related Quality of Life in Individuals with Inherited Retinal Diseases

PURPOSE: To evaluate the impact of inherited retinal diseases (IRDs) on quality of life (QoL) using multiattributable health utilities derived from primary patient data. DESIGN: Cross-sectional observational study. PARTICIPANTS: Seventy adult patients (mean age, 42.7 years) with IRD recruited from state-wide services in Australia. METHODS: Health utility values were calculated from the Assessment of Quality of Life 8-Dimension (AQoL-8D). Linear regressions were used to analyze the relationship between the 25-item and 39-item National Eye Institute Visual Function Questionnaires (NEI-VFQ-25 and NEI-VFQ-39, respectively) and health utilities from the AQoL-8D. MAIN OUTCOME MEASURES: The AQoL-8D utility values were compared between the IRD cohort and population norms. Regressions were used to determine explanatory power of the NEI-VFQ-25 and NEI-VFQ-39 for health utilities from the AQoL-8D. RESULTS: Average health-related utility for patients with IRD was 0.58, significantly lower than population norms of 0.80. The IRD patient scores were significantly lower than population norms for all 8 domains of the AQoL-8D. Regressions showed a statistically significant relationship between the NEI-VFQ-39 and AQoL-8D, with the NEI-VFQ-39 and other clinical data explaining up to 73% of the variation in AQoL-8D values and 69% of the variation in the NEI-VFQ-25 values. CONCLUSIONS: Patients with IRD have significantly lower utility values across all dimensions of QoL, with the largest differences in independent living, senses, and relationships. The NEI-VFQ-25 and NEI-VFQ-39 are highly correlated with overall AQoL-8D utilities and, combined with other data, can reasonably estimate QoL utilities required for cost-effectiveness studies.