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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
Summary
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:
- 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.