Baseline perimetry in Pro-EYS and correlation with other measures of disease severity

Abstract

Purpose : To address limited data characterizing retinal degeneration related to biallelic EYS variants, the Foundation Fighting Blindness Consortium is conducting a 4-year multicenter, international natural history study: Rate of Progression in EYS-Related Retinal Degeneration (Pro-EYS). Here we report baseline data on static perimetry (SP) and its relationship with participant characteristics and other outcome measures.

Methods : SP was performed by participants with baseline visual acuity ≥ 20/400. Summary SP measures were total hill of vision (V_TOT), hill of vision (HOV) in the central 30° (V₃₀), V_TOT-V₃₀ (V_PERIPH), and mean sensitivity (MS). Intra-class correlation coefficients (ICC) and repeatability coefficient (RC) were used to assess reproducibility of SP between tests 1 and 2. Mixed effects linear models assessed the association of demographic and clinical characteristics with V_TOT. Associations among SP measures and with other functional and structural measures were assessed with Spearman correlation coefficients (r_s).

Results : Ninety-six participants (52% female) with median age of 42 years and disease duration of 19 years were included in analyses. The median and interquartile range were 6.3 (2.0, 16.6) dB-sr for V_TOT, 4.2 (1.7, 9.5) dB-sr for V₃₀, 1.4 (0.0, 7.0) dB-sr for V_PERIPH, and 5.3 (2.4, 9.9) dB-sr for MS. Three-dimensional (3-D) HOV images illustrate the range of V_TOT (Figure 1). The RC for V_TOT was 5.7 dB-sr with high subject-level concordance between tests 1 and 2 (ICC= 0.96). SP measures were strongly correlated with each other (r_s=0.83 to 0.98; Figure 2) and with microperimetry MS (r_s=0.55 to 0.81, all P < 0.001). Mild to moderate correlations were observed between SP and other measures including best corrected visual acuity, full-field stimulus threshold, full-field electroretinography amplitudes, and ellipsoid zone area. Higher V_TOT values were associated with shorter disease duration (P = 0.03) and phakia (P = 0.01).

Conclusions : V_TOT decreases with disease duration in EYS-associated retinal degeneration and shows high repeatability. The correlation of V_TOT with other SP and outcome measures suggests it is a good summary measure of disease severity.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

 

3-D HOV images for 2 participants

 

Matrix plot for SP measures. Panels along the diagonal show the histograms with density curves; upper panels show Spearman correlation coefficients; lower panels show scatterplots with loess smooth curves.