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Case Reports
. 2014 Aug;18(4):404-7.
doi: 10.1016/j.jaapos.2014.03.006.

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

Eleni Papanagnu  1 , Lindsay D Klaehn  1 , Genie M Bang  2 , Rafif Ghadban  3 , Brian G Mohney  1 , Michael C Brodsky  4
Affiliations
Case Reports

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

Eleni Papanagnu et al. J AAPOS. 2014 Aug.

Abstract

Joubert 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.

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