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Pilot Study of Patient-Reported Outcomes in Stargardt Disease: Correlation With Functional and Structural Findings
Johnson Hoang1, Iden Amiri1, Lauren Dimalanta1
1Department of Ophthalmology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States.
Investigative Ophthalmology & Visual Science
|May 7, 2026
Summary
Stargardt disease (STGD) significantly impacts daily activities and mental health, with vision-related anxiety correlating with clinical measures. Understanding these patient-reported outcomes (PROs) is crucial for developing effective STGD interventions.
Area of Science:
- Ophthalmology
- Genetics
- Psychology
Background:
- Stargardt disease (STGD) is a leading inherited macular degeneration affecting central vision.
- Understanding the patient-perceived impact on daily life and mental well-being is essential for comprehensive care.
Purpose of the Study:
- To evaluate how STGD affects activities of daily living and mental health.
- To correlate patient-reported outcome (PRO) measures from the Michigan Retinal Degeneration Questionnaire (MRDQ) and Vision-Related Anxiety Questionnaires (MVAQs) with clinical data.
Main Methods:
- Recruited patients with STGD and biallelic ABCA4 mutations from established databases.
- Administered MRDQ and MVAQ questionnaires; retrospectively analyzed clinical data including BCVA, ERG, and FAF for a subset of patients.
Main Results:
- Fifty participants completed the study. MRDQ scores indicated significant impact on central vision, color vision, contrast sensitivity, and photosensitivity.
- Vision-related anxiety scores showed correlations with both cone- and rod-related visual functions.
- Clinical measures like BCVA, ERG, and FAF correlated with functional vision deficits and anxiety levels.
Conclusions:
- Clinical and functional measures in STGD patients correlate with reduced vision and increased vision-related anxiety.
- These findings highlight the patient-perceived disease burden and can inform future therapeutic strategies for STGD.
