• J AAPOS · Feb 2017

    Case Reports

    An abnormal ocular motor manifestation of Joubert syndrome.

    • Jeanie Ling, Viraj Mehta, Anvesh Reddy, Matthew Hollar, and Sean Donahue.
    • Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee. Electronic address: Jeanie.d.ling@vanderbilt.edu.
    • J AAPOS. 2017 Feb 1; 21 (1): 75-77.

    AbstractJoubert syndrome is a congenital neurodevelopmental disorder primarily affecting the midbrain and hindbrain. It is characterized by ataxia, hypotonia, and developmental delay as well as apnea or abnormal ocular motor function. We describe and present a video of a child with Joubert syndrome with an alternating skew deviation in primary position rather than on lateral gaze, which is a more characteristic phenotype of this condition.Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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