title: Eye movement abnormalities in Joubert syndrome.
abstract: OBJECTIVE
  Joubert syndrome is a genetic disorder characterized by hypoplasia of the midline cerebellum and deficiency of crossed connections between neural structures in the brain stem that control eye movements. The goal of the study was to quantify the eye movement abnormalities that occur in Joubert syndrome.
  
  
  METHODS
  Eye movements were recorded in response to stationary stimuli and stimuli designed to elicit smooth pursuit, saccades, optokinetic nystagmus (OKN), vestibulo-ocular reflex (VOR), and vergence using video-oculography or Skalar search coils in 8 patients with Joubert syndrome. All patients underwent high-resolution magnetic resonance imaging (MRI).
  
  
  RESULTS
  All patients had the highly characteristic molar tooth sign on brain MRI. Six patients had conjugate pendular (n = 4) or see-saw nystagmus (n = 2); gaze holding was stable in four patients. Smooth-pursuit gains were 0.28 to 1.19, 0.11 to 0.68, and 0.33 to 0.73 at peak stimulus velocities of 10, 20, and 30 deg/s in six patients; smooth pursuit could not be elicited in four patients. Saccade gains in five patients ranged from 0.35 to 0.91 and velocities ranged from 60.9 to 259.5 deg/s. Targeted saccades could not be elicited in five patients. Horizontal OKN gain was uniformly reduced across gratings drifted at velocities of 15, 30, and 45 deg/s. VOR gain was 0.8 or higher and phase appropriate in three of seven subjects; VOR gain was 0.3 or less and phase was indeterminate in four subjects.
  
  
  CONCLUSIONS
  The abnormalities in gaze-holding and eye movements are consistent with the distributed abnormalities of midline cerebellum and brain stem regions associated with Joubert syndrome.
authors.affiliation: Division of Ophthalmology, Children's Hospital and Regional Medical Center, Seattle, Washington 98115, USA. avery.weiss@seattlechildrens.org
authors.forename: Avery H
authors.initials: AH
authors.lastname: Weiss
authors.forename: Dan
authors.initials: D
authors.lastname: Doherty
authors.forename: Melissa
authors.initials: M
authors.lastname: Parisi
authors.forename: Dennis
authors.initials: D
authors.lastname: Shaw
authors.forename: Ian
authors.initials: I
authors.lastname: Glass
authors.forename: James O
authors.initials: JO
authors.lastname: Phillips
mesh_terms: D000293:Adolescent; D001933:Brain Stem / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000503:physiopathology*; D009760:Nystagmus, Physiologic / Q000502:physiology; D015835:Ocular Motility Disorders / Q000503:physiopathology*; D011698:Pursuit, Smooth / Q000502:physiology; D012027:Reflex, Vestibulo-Ocular / Q000502:physiology; D012162:Retinal Degeneration / Q000503:physiopathology*; D012438:Saccades / Q000502:physiology; D013577:Syndrome