Pilot Study of Patient-Reported Outcomes in Stargardt Disease: Correlation With Functional and Structural Findings

Purpose: The purpose of this study was to assess the impact of Stargardt disease (STGD) on activities of daily living and mental health, correlating patient-reported outcome (PRO) measures from the Michigan Retinal Degeneration (MRDQ) and Vision-Related Anxiety Questionnaires (MVAQs) with clinical data. Methods: Patients with STGD with biallelic pathogenic ABCA4 mutations were recruited from the University of North Carolina (UNC) at Chapel Hill and Foundation Fighting Blindness (FFB) databases. Participants completed MRDQ and MVAQ testing. Best-corrected visual acuity (BCVA), electroretinogram (ERG), and fundus autofluorescence (FAF) were retrospectively analyzed for UNC patients. Results: Fifty participants (mean age = 48.8 ± 18.5) were included. Median θ for MRDQ: central vision (0.138), color vision (0.143), contrast sensitivity (0.122), and photosensitivity (0.185). Median MVAQ θ scores for cone- and rod-related anxiety were 0.005 and -0.055, respectively. The following additional analyses were performed using the UNC subset of participants (n = 12): BCVA correlated with contrast sensitivity (P = 0.027). Rod ERG response correlated with scotopic vision (P = 0.044). Central FAF lesion extent correlated with central vision (P = 0.039) and contrast sensitivity (P = 0.032). Rod-related anxiety correlated with rod ERG response (P = 0.048), color vision (P < 0.001), contrast sensitivity (P < 0.001), photopic peripheral vision (P < 0.001), cone-related anxiety (P < 0.001), photosensitivity (P = 0.014), mesopic peripheral vision (P < 0.001), and scotopic vision (P < 0.001). Cone-related anxiety correlated with color vision (P = 0.026), contrast sensitivity (P = 0.013), photopic peripheral vision (P < 0.001), mesopic peripheral vision (P < 0.001), and scotopic vision (P < 0.001). Conclusions: In patients with STGD, structural and functional measures correlated with reduced functional vision and increased vision-related anxiety per PRO criteria. These findings provide insight into patient-perceived disease burden and may help inform future STGD interventions.