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

doi:10.1016/j.jaapos.2014.03.006

Article

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

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2014

Papanagnu Eleni, Klaehn Lindsay D, Bang Genie M, Ghadban Rafif, Mohney Brian G, Brodsky Michael C

Abstract excerpt

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

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