Infantile-onset saccade initiation delay (congenital ocular motor apraxia)

Michael S Salman1

  • 1Winnipeg Children's Hospital and Section of Pediatric Neurology, Department of Pediatrics and Child Health, College of Medicine, Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada, msalman@hsc.mb.ca.

Insights

Congenital ocular motor apraxia, characterized by saccade initiation delay, often presents with head thrusts in infants. This condition primarily affects horizontal eye movements, with vertical saccade issues being rare but indicative of brain abnormalities.

Area of Science:

  • Neuroscience
  • Ophthalmology
  • Pediatrics

Background:

  • Infantile-onset saccade initiation delay, or congenital ocular motor apraxia, is a condition typically emerging in early infancy.
  • Key features include difficulties initiating horizontal saccades (eye movements) and saccade hypometria, with normal saccadic velocity.

Purpose of the Study:

  • To describe the clinical presentation and neuroimaging findings associated with infantile-onset saccade initiation delay.
  • To differentiate the typical presentation from rarer forms and associated neurological disorders.

Main Methods:

  • Clinical case review and analysis of characteristic ophthalmological findings.
  • Correlation of ocular motor abnormalities with brain Magnetic Resonance Imaging (MRI) findings.

Main Results:

  • Horizontal saccade initiation delay and hypometria are characteristic; isolated vertical saccade impairment is rare and suggests supratentorial abnormalities.
  • Associated features can include developmental delay, hypotonia, ataxia, and abnormal optokinetic responses, often linked to cerebellar or midbrain-hindbrain malformations.
  • Disorders like Joubert syndrome and ataxia telangiectasia present with broader saccade impairments and distinct neuroimaging findings.

Conclusions:

  • Congenital ocular motor apraxia has a distinct presentation involving horizontal saccade deficits, with vertical saccade abnormalities pointing to specific brain lesions.
  • Neuroimaging is crucial for identifying underlying causes, differentiating from other neurodevelopmental disorders, and understanding the spectrum of saccadic eye movement dysfunction.