New insights from paediatric electrophysiology

Abstract

Visual electrophysiology is uniquely valuable in paediatric practice because it provides objective measures of visual pathway function. The combination of electroretinograms and visual evoked potentials to flashes and patterns enables a functional assessment of the entire pathway, from photoreceptors to striate cortex. This information can be impossible to obtain from children by other means. Electrophysiology complements structural information, often highlighting discrepant structure function relationships.Objective functional electrophysiology facilitates early diagnosis and can delineate potential treatment windows from the youngest ages. Thus visual electrophysiology findings in children contribute to natural history and deep phenotyping studies that inform clinical trials of new treatments not only for ocular disease, but also systemic diseases that involve the eye.This talk will describe ways in which ISCEV tests can be adapted and optimized for young children in clinical practice without loss of diagnostic accuracy, and how electrophysiology can distinguish phenotypes and inform genetic analysis. Examples of the value and limitations of electrophysiology in potential gene trials and other ameliorating treatments will be presented and discussed; including inherited retinal disease such as RPE65, neurodegenerations that affecting the eye such as CLN2 and iron brain disorders such as PKAN and ciliopathies such as BBS.Key words: visual electrophysiology, children, ERG, VEP, ISCEV.