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Joubert syndrome.

S R Lambert¹, A Kriss, M Gresty

¹Department of Ophthalmology, Hospital for Sick Children, London, England.

Archives of Ophthalmology (Chicago, Ill. : 1960)

|May 1, 1989

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Joubert syndrome, a rare genetic disorder, presents with distinct retinal and eye movement issues. Unlike Leber

Area of Science:

Neuro-ophthalmology
Genetics
Pediatric Neurology

Background:

Joubert syndrome is an autosomal recessive disorder characterized by central nervous system abnormalities.
It often includes congenital retinal dystrophy, ocular motor deficits, and early infant respiratory issues.
The retinal dystrophy has been previously misclassified as a variant of Leber's congenital amaurosis.

Observation:

This study examined electrophysiologic and eye movement findings in seven children with Joubert syndrome.
Magnetic resonance imaging confirmed cerebellar vermis hypoplasia in all participants.
Ocular motor abnormalities were prevalent, including nystagmus and pursuit deficits.

Findings:

Most children with Joubert syndrome exhibited preserved visual evoked potentials, differentiating them from Leber's congenital amaurosis.

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Abnormalities in smooth pursuit, optokinetic nystagmus, and saccades were observed in the majority of patients.

Various forms of nystagmus, including pendular torsional and see-saw, were noted, along with alternating hyperdeviation.

Implications:

These findings help distinguish Joubert syndrome from Leber's congenital amaurosis based on specific electrophysiologic and ocular motor signatures.
Early identification of Joubert syndrome is crucial for appropriate management and intervention.
Developmentally delayed children with abnormal electroretinograms warrant investigation for Joubert syndrome.