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

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

Ophthalmology

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	404-407
Number of pages	4
Journal	Journal of AAPOS
Volume	18
Issue number	4
DOIs	https://doi.org/10.1016/j.jaapos.2014.03.006
State	Published - Aug 2014

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

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10.1016/j.jaapos.2014.03.006

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title = "Congenital ocular motor apraxia with wheel-rolling ocular torsion - A neurodiagnostic phenotype of Joubert syndrome",

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.",

author = "Eleni Papanagnu and Klaehn, {Lindsay D.} and Bang, {Genie M.} and Rafif Ghadban and Mohney, {Brian G.} and Brodsky, {Michael C.}",

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AU - Papanagnu, Eleni

AU - Klaehn, Lindsay D.

AU - Bang, Genie M.

AU - Ghadban, Rafif

AU - Mohney, Brian G.

AU - Brodsky, Michael C.

PY - 2014/8

Y1 - 2014/8

N2 - 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.

AB - 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

Abstract

ASJC Scopus subject areas

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