title: An abnormal ocular motor manifestation of Joubert syndrome.
abstract: Joubert 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.
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee. Electronic address: Jeanie.d.ling@vanderbilt.edu.
authors.forename: Jeanie
authors.initials: J
authors.lastname: Ling
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
authors.forename: Viraj
authors.initials: V
authors.lastname: Mehta
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
authors.forename: Anvesh
authors.initials: A
authors.lastname: Reddy
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
authors.forename: Matthew
authors.initials: M
authors.lastname: Hollar
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
authors.forename: Sean
authors.initials: S
authors.lastname: Donahue
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities*; D002658:Developmental Disabilities; D005124:Eye Abnormalities / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D015835:Ocular Motility Disorders / Q000175:diagnosis*; D012160:Retina / Q000002:abnormalities*