ELECTROPHYSIOLOGICAL AND EYE-MOVEMENT ABNORMALITIES IN CHILDREN WITH THE BARDET-BIEDL SYNDROME

We investigated 17 patients with clinical features of Bardet-Biedl syn drome by electroretinogram (ERG), visual-evoked potentials (VEP), and electro-oculographic (EOG) eye movement assessment. The ERGs were gros sly abnormal in 16 cases. Pattern VEPs were generally well preserved, but showed a tendency to increase in latency and decrease in amplitude with age. These results confirm other reports that the retinopathy ap pears to be a progressive rod-cone dystrophy initially affecting mainl y extramacular areas but involving the macula at later stages. Seven o f 11 patients showed abnormalities of either optokinetic nystagmus, ve stibule-ocular reflex, or both, These eye-movement abnormalities have not been reported previously, and are further evidence of central nerv ous system involvement in this syndrome.