Abstract
Purpose :
Full-field electroretinography (ffERG) can provide functional insight of retinal dysfunction in the pediatric population with inherited retinal degenerations (IRDs). Although genetic testing can aid in diagnosis, in many that undergo testing, the results can be non-diagnostic. Dissecting ffERG features can reveal salient signatures which can provide valuable disease insights.
Methods :
Charts of 539 children who underwent ffERG from 1994 to 2021 were reviewed and 353 met criteria of complete ffERG data for analysis. Demographics, ophthalmic diagnosis, and ffERG parameters were extracted. Abnormal ffERGs were clinically categorized as a cone or cone-rod dystrophy (CD) (n=95, 37.4%), a rod dystrophy (RD) (n=55, 21.7%), a generalized photoreceptor dystrophy (GD) (n=59, 23.2%), and a systemic disease with retinal manifestations (n=45, 17.7%). Data analysis across categories using a Bonferroni correction and an analysis of covariance (ANCOVA) with age as a covariate was then carried out.
Results :
Of 353 children included, 254 had an abnormal ffERG. Comparison between normal and different disease category groups revealed that scotopic signal analysis (B-wave amplitude under dark adaption) revealed a statistically significant difference between rod mediated disease (RD and GD) and normal and CD whereas photopic signal (B-wave amplitude under light adaptation) revealed a statistically significant difference between CD and all other groups. Mixed rod-cone and flicker responses were not statistically significant across all groups. Latencies were similar among all disease groups. The ANCOVA demonstrated the RD has the most rapid decline of BWA with age. Of the 92 children with genetic testing, the majority were diagnostic and for those who had a presumptive genetic diagnosis, the genetic etiology correlated with disease categorization and associated ffERG parameters.
Conclusions :
Photopic and scotopic ffERG parameters provide valuable insight into the suspected clinical disease categorization, whereas genetic testing provides further insight into particular disease categorization. Given the genetic heterogeneity of IRDs this data demonstrates that ffERG may provide diagnostic insight into genetic etiologies of disease. With further testing, genotypic correlation with ffERG may provide valuable disease-variant specific correlation in the future.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.