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Article
May 1989

Joubert Syndrome

Author Affiliations

From the Departments of Ophthalmology (Drs Lambert, Kriss, and Taylor) and Neurology (Dr Benton), The Hospital for Sick Children, and the Department of Neuro-otology (Dr Gresty), The National Hospital for Nervous Diseases, London. Dr Lambert is now with Emory University Eye Center, Atlanta.

Arch Ophthalmol. 1989;107(5):709-713. doi:10.1001/archopht.1989.01070010727035
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.

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