Abstract

Combined recordings of the electroretinogram (ERG) and the cortical visual evoked response (VER) have been made together with the electroencephalogram (EEG) in 16 children suffering from a `late infantile' form of `neuronal lipidosis'. The ERG was not usually recordable, in keeping with a gross loss of function of the retinal receptor elements. However, in all the 16 children, at whatever stage of the disease, a grossly enlarged VER was seen (some 12 to 20 times higher in amplitude than in a control group) and visible as a discharge on the primary EEG tracing. The first components of the VER were, however, of fairly similar wave form and latency to those seen in the control children. This unusual combination of ERG and VER findings together with the EEG features have not been found in other groups of diseases.