Optic nerve dysfunction in familial dysautonomia

G A Diamond, R A D'Amico, F B Axelrod
American Journal of Ophthalmology 1987 December 15, 104 (6): 645-8
We examined 12 patients with familial dysautonomia who had clear corneas to determine if there was any optic nerve involvement. The patients ranged in age from 6 to 34 years. Visual acuity ranged from 20/20 to 20/100. Nineteen eyes of 12 patients (79%) had abnormal (mean +/- 3 S.D.) pattern reversal visual-evoked potentials as compared to 50 control eyes (P100 = 98.8 msec; S.D., +/- 4.5 msec). P100 latency appeared to worsen with age. Exodeviation was present in seven patients (58%) and correlated with visual acuity and P100 latency. Ophthalmoscopic examination showed some degree of optic nerve pallor in all eyes.

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