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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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Related Experiment Video

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Characterizing the Relationship Between Eye Movement Parameters and Cognitive Functions in Non-demented Parkinson's Disease Patients with Eye Tracking
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Eye movement abnormalities in Joubert syndrome.

Avery H Weiss1, Dan Doherty, Melissa Parisi

  • 1Division of Ophthalmology, Children's Hospital and Regional Medical Center, Seattle, Washington 98115, USA. avery.weiss@seattlechildrens.org

Investigative Ophthalmology & Visual Science
|May 16, 2009
PubMed
Summary

Joubert syndrome, a genetic disorder, causes significant eye movement abnormalities including impaired smooth pursuit and saccades. These findings correlate with brain abnormalities in Joubert syndrome patients.

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Area of Science:

  • Neuroscience
  • Genetics
  • Ophthalmology

Background:

  • Joubert syndrome is a rare genetic disorder.
  • It is characterized by cerebellar hypoplasia and brain stem abnormalities.
  • These structural changes affect neural pathways controlling eye movements.

Purpose of the Study:

  • To quantify the specific eye movement abnormalities in Joubert syndrome.
  • To correlate these findings with the known neuroanatomical deficits.

Main Methods:

  • Recorded eye movements in 8 Joubert syndrome patients using video-oculography or search coils.
  • Stimuli included stationary targets, smooth pursuit, saccades, optokinetic nystagmus (OKN), vestibulo-ocular reflex (VOR), and vergence.
  • High-resolution MRI was performed on all participants.

Main Results:

  • All patients exhibited the characteristic molar tooth sign on MRI.
  • Abnormalities included pendular or see-saw nystagmus, impaired smooth pursuit, saccade deficits, reduced OKN gain, and variable VOR function.
  • Five patients could not elicit targeted saccades, and four had reduced VOR gain.

Conclusions:

  • The observed eye movement abnormalities are consistent with the midline cerebellar and brain stem structural deficits in Joubert syndrome.
  • These findings highlight the impact of Joubert syndrome on oculomotor control.