Joubert syndrome.

Abstract

Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report electrophysiologic and eye movement findings in a series of seven consecutive children with Joubert syndrome. Unlike patients with Leber's congenital amaurosis, all but one of these children had preserved flash and pattern-reversal visual evoked potentials. Six of the seven children had abnormalities of smooth pursuit, optokinetic nystagmus, and saccades. Six of the children had nystagmus: three had a pendular torsional nystagmus and three had a form of see-saw nystagmus. An alternating hyperdeviation was present in five of the patients, two of whom also had a tonic deviation of their eyes laterally. All seven patients had cerebellar vermis hypoplasia on a magnetic resonance imaging scan. Developmentally delayed children with an absent or highly attenuated electroretinogram should be investigated for Joubert syndrome.