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 Citations (Scopus)

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 - 2014

Fingerprint

Phenotype
Eye Movements
Apraxia, oculomotor, Cogan type
Joubert syndrome 1

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Congenital ocular motor apraxia with wheel-rolling ocular torsion - A neurodiagnostic phenotype of Joubert syndrome. / Papanagnu, Eleni; Klaehn, Lindsay D.; Bang, Genie M.; Ghadban, Rafif; Mohney, Brian G.; Brodsky, Michael C.

In: Journal of AAPOS, Vol. 18, No. 4, 2014, p. 404-407.

Research output: Contribution to journalArticle

Papanagnu, Eleni ; Klaehn, Lindsay D. ; Bang, Genie M. ; Ghadban, Rafif ; Mohney, Brian G. ; Brodsky, Michael C. / Congenital ocular motor apraxia with wheel-rolling ocular torsion - A neurodiagnostic phenotype of Joubert syndrome. In: Journal of AAPOS. 2014 ; Vol. 18, No. 4. pp. 404-407.
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