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, Michael C. Brodsky

Research output: Contribution to journalArticle

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)404-407
Number of pages4
JournalJournal of AAPOS
Volume18
Issue number4
DOIs
StatePublished - Aug 2014

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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