Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study

• Published in: American journal of ophthalmology Vol. 276; pp. 9 - 21
• Main Authors: Duncan, Jacque L., Maguire, Maureen G., McDaniel, Lee S., Doucet, Nicole R., Audo, Isabelle, Ayala, Allison R., Cheetham, Janet K., Cheng, Peiyao, Durham, Todd A., Huckfeldt, Rachel M., Hufnagel, Robert B., Jayasundera, K. Thiran, Khan, Naheed, Malbin, Brett, Maldonado, Ramiro S., Michaelides, Michel, Pennesi, Mark E., Weng, Christina Y., Zmejkoski, Alex, Aravind, Shobana, Ishikawa, Hiroshi, Birch, David G.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2025
• Subjects: Adult; Aged; Disease Progression; Extracellular Matrix Proteins - genetics; Female; Follow-Up Studies; Humans; Male; Middle Aged; Prospective Studies; Usher Syndromes - diagnosis; Usher Syndromes - genetics; Usher Syndromes - physiopathology; Vision Disorders - diagnosis; Vision Disorders - physiopathology; Visual Acuity - physiology; Visual Field Tests; Visual Fields - physiology
• ISSN: 0002-9394; 1879-1891; 1879-1891
• DOI: 10.1016/j.ajo.2025.03.039

To report visual field loss using static perimetry (SP) and kinetic perimetry (KP) over 4 years in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) study. Prospective, observational cohort study. Participants had USH2A-related rod-cone degeneration, visual acuity ≥20/80, and KP III4e ≥10° at baseline in the study eye. Preserved cohorts with baseline visual fields sufficient to detect progression were identified. Participants were examined annually through 4 years. Mixed-effects models were used to estimate the annual, standardized rate, and percentage rates of change. SP measures included hill of vision (total: VTOT, central 30°: V30, and peripheral: VPERIPH) and centrally weighted mean sensitivity (MScw). Percentages with 4-year progression exceeding the coefficient of repeatability (CoR) and with change meeting Food and Drug Administration (FDA)-recommended criteria were estimated. KP seeing area (dB-steradian (sr)/degree) for I4e, III4e, and V4e isopters was calculated. The average decline with SP (95% CI) was 1.94 (1.62, 2.25) dB-sr/y for VTOT, 0.54 (0.45, 0.62) dB-sr/y for V30, 1.37 (1.11, 1.63) dB-sr/y for VPERIPH, and 0.56 (0.48, 0.64) dB/y for MScw. Average percentage decline per year was 8.6% (7.2, 10.0) for VTOT, 6.4% (5.3, 7.5) for V30, 13.6% (10.4, 16.7) for VPERIPH, and 5.6% (4.7, 6.4) for MScw. The standardized rate of change was greatest at −1.35 for MScw. Rates were higher in the preserved cohorts. Progression exceeding the CoR was 18% (11, 28) for VTOT, 21% (13, 31) for V30, 21% (13, 31) for VPERIPH and 17% (10, 27) for MScw. Progression exceeding an FDA-recommended threshold was 5% (2%, 12%) for all SP points and 45% (35%, 55%) for functional transition points. Average KP annual percentage decline was 13.1% (7.5, 18.5) for I4e, 12.1% (8.1,15.9) for III4e, and 9.2% (6.3,12.0) for V4e. All quantitative perimetry measures declined over 4 years. Progression was greater than the CoR in a relatively low percentage of eyes (17%-21%); 45% exceeded the FDA-recommended threshold when only functional transition points were considered. Standardized rate of change was greatest for MScw. These measures are useful characterizations of vision loss in USH2A-related retinal degeneration.