Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal...

Area of Science:

• Ophthalmology
• Genetics
• Patient-Reported Outcomes

Background:

• USH2A gene variants cause significant retinal degeneration, impacting functional vision.
• Usher Syndrome Type 2 (USH2) and autosomal recessive non-syndromic retinitis pigmentosa (ARRP) are key conditions associated with USH2A.
• Evaluating functional vision (FV) in these patients is crucial for understanding disease impact.

Purpose of the Study:

• To assess self-reported FV using the Michigan Retinal Degeneration Questionnaire (MRDQ).
• To determine the impact of vision loss in patients with USH2A-associated retinal degeneration.
• To correlate MRDQ scores with established visual function measurements.

Main Methods:

• An observational, cross-sectional study of 93 participants with USH2 or ARRP.
• Participants completed the MRDQ at 48-month follow-up.
• Statistical analyses included ANOVA and Spearman correlation to assess MRDQ domain associations with visual function.

Main Results:

• MRDQ domains showed sensitivity to clinical diagnosis, age, disease duration, and FST Blue-Red mediation.
• MRDQ scores correlated significantly with static perimetry, microperimetry, full-field stimulus testing, and BCVA.
• The median disease duration was 13 years, with 58% female participants.

Conclusions:

• The MRDQ is a valid patient-reported outcome measure for functional vision in USH2A-associated retinal degeneration.
• MRDQ provides valuable insights into vision-related functioning in USH2 and ARRP patients.
• This PRO tool is informative for evaluating outcomes in USH2A-related conditions.