Abstract
Purpose :
To address limited data characterizing retinal degeneration related to biallelic mutations in EYS, we evaluated baseline data on best corrected visual acuity (BCVA), low luminance visual acuity (LLVA), electroretinography (ERG), full-field stimulus threshold (FST), contrast sensitivity (CS) and their relationship with participant characteristics and other functional and structural measures from the Rate of Progression in EYS-Related Retinal Degeneration (Pro-EYS) study.
Methods :
Study-certified examiners following standard protocols tested both eyes of patients on VA (eETDRS or Berkeley Rudimentary Vision Test), LLVA (eETDRS with 2.0 neutral density filter), CS (VectorVision CSV-1000E), FST (Espion E3 system; white, blue, and red stimuli [only at centers with the system]), and ERG (if previously detectable). Generalized linear mixed effects models with a random intercept to account for correlation in outcome between eyes were used to assess the association of demographic and clinical characteristics with visual measures. Strength of associations among these measures and with other functional and structural measures were assessed with Spearman correlation coefficients (rs).
Results :
Patients (N=103) had a median age of 45 years (range:19-84), 51% female, and 71% white with median duration of disease of 19 years (range 2 to 54). Summary statistics for these measures are in Table 1. The visual measures within each domain were strongly correlated with each other, with rs=0.92 for BCVA vs LLVA, rs=0.88 for all three ERG amplitude measures, and rs ranging from 0.87 to 0.96 among three FST measures (Table 2 tan highlight, all P<0.001). There were moderate correlations across different domains (rs=0.31 to 0.69) except for ERG measures, which were only correlated with microperimetry mean sensitivity and SP measures moderately (Table 2 blue highlight). Both lower BCVA values and peak CS were significantly associated with older age (P<0.001).
Conclusions :
Patients with biallelic mutations in EYS demonstrate baseline reductions in BCVA, LLVA and CS that are significantly associated with age as well as severe reductions in ERG and increased FST thresholds. Prospective data will be collected over the next four years to determine rates of progression.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.