Electrophysiological findings in a large sample of children with diagnosis of Joubert syndrome

Abstract

Abstract Purpose To compare electrophysiological data in a group of patients with Joubert syndrome (JS). Methods We enrolled 26 JS patients. They underwent to complete ophthalmological assessment and functional analysis by mean of electroretinogram (ERG) and patterned evoked potentials (pVEPs) recorded in awake conditions. Patients were divided into 2 groups, depending on the presence of retinal dystrophy at clinical evaluation. We compared data from electrophysiological assessment between three groups of eyes: 1) JS subjects with retinal dystrophy (RD‐JS): 15 patients 2) JS subjects without retinal dystrophy (NRD‐JS): 11 patients 3) Control (CTRL) eyes: 18 patients Results Our three groups did not statistically differ in age. In the RD‐JS, traces were really poor, mostly the 30 Hz and "a“ component, or not measurable at all. Though, for the “b“ trace, it was possible to measure reliable signal in 7 of 15 patients. As a result of the statistical analysis (ANOVA Kwallis with adjust p values for two comparisons) mean ERG amplitudes and latencies were reduced and delayed respectively, not only in the analysis “RD‐JS vs CTRL” and “RD‐JS vs NRD‐JS”, but also, for some parameters, between NRD‐JS and the CTRL. Conclusion The electrophysiological alterations in the ERG and pVEPs recordings might be an index of subclinical involvement or imply both a central retinal alteration and a central nervous system disease.