• J AAPOS · Aug 2014

    Case Reports

    Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome.

    • Eleni Papanagnu, Lindsay D Klaehn, Genie M Bang, Rafif Ghadban, Brian G Mohney, and Michael C Brodsky.
    • Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
    • J AAPOS. 2014 Aug 1; 18 (4): 404-7.

    AbstractJoubert syndrome is a multisystem disorder that is associated with a constellation of cyclic ocular motor disturbances. We describe 2 children with congenital ocular motor apraxia who displayed wheel-rolling torsional eye movements and tonic alternating cyclodeviations of the eyes on retinal examination as a neurodiagnostic phenotype of Joubert syndrome. Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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