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Related Experiment Videos

Optic nerve dysfunction in familial dysautonomia.

G A Diamond1, R A D'Amico, F B Axelrod

  • 1Department of Ophthalmology, St. Vincent's Hospital and Medical Center, New York, NY 10011.

American Journal of Ophthalmology
|December 15, 1987
PubMed
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Familial dysautonomia patients often show optic nerve damage, even with clear corneas. Abnormal visual-evoked potentials and optic nerve pallor were common, worsening with age.

Area of Science:

  • Ophthalmology
  • Neuroscience
  • Genetics

Background:

  • Familial dysautonomia is a rare genetic disorder affecting the autonomic nervous system.
  • Optic nerve involvement in familial dysautonomia is not well-characterized, especially in patients with clear corneas.

Purpose of the Study:

  • To investigate optic nerve involvement in patients with familial dysautonomia.
  • To assess visual function using pattern reversal visual-evoked potentials (VEPs) and ophthalmoscopy.

Main Methods:

  • Examined 12 patients (ages 6-34) with familial dysautonomia and clear corneas.
  • Performed pattern reversal VEPs and ophthalmoscopic examinations.
  • Compared patient results to 50 control eyes.

Main Results:

Related Experiment Videos

  • 79% of patients exhibited abnormal VEPs (P100 latency), with latency increasing with age.
  • 58% of patients had exodeviation, correlating with visual acuity and VEP latency.
  • All examined eyes showed some degree of optic nerve pallor.

Conclusions:

  • Familial dysautonomia frequently involves the optic nerve, indicated by abnormal VEPs and optic nerve pallor.
  • Visual function deficits and optic nerve changes appear to progress with age in these patients.