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Related Experiment Videos

Elevation of one eye during tooth brushing.

Irene Gottlob1, Sunila Jain, Elizabeth C Engle

  • 1Department of Ophthalmology, Leicester Warwick Medical School, United Kingdom. ig15@le.ac.uk

American Journal of Ophthalmology
|September 5, 2002
PubMed
Summary

This study details a rare case of congenital fibrosis of the extraocular muscles (CFEOM) in a child, presenting an unusual eye elevation during tooth brushing. This finding suggests aberrant nerve regeneration in CFEOM patients.

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Area of Science:

  • Ophthalmology
  • Neuroscience
  • Genetics

Background:

  • Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic disorder affecting eye movement.
  • Understanding the underlying mechanisms of CFEOM is crucial for diagnosis and potential treatments.

Observation:

  • A 9-month-old female patient presented with classic CFEOM symptoms.
  • An unusual observation was the elevation of her right eye beyond midline specifically during tooth brushing, not with other mouth movements.

Findings:

  • The patient exhibited bilateral ptosis, infraducted globes, and limited upgaze, consistent with CFEOM.
  • Genetic sequencing of the ARIX gene (associated with CFEOM2) revealed no mutations.
  • The unique eye movement during tooth brushing suggests aberrant regeneration between the superior rectus muscle nerve and the trigeminal nerve.

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Implications:

  • This case is the first to describe CFEOM with this specific aberrant innervation pattern.
  • The findings support the hypothesis of a primary developmental abnormality of cranial nerves in CFEOM.
  • Further research into cranial nerve development may elucidate CFEOM pathogenesis.