title: Optic atrophy in familial dysautonomia.
abstract: We examined three patients with classic findings of familial dysautonomia (Riley-Day syndrome) whose visual impairment was associated with optic atrophy. The presence of an optic atrophy in familial dysautonomia is indicative of central nervous system involvement, at least in these cases. Each of these patients was first noted to have visual impairment after the first decade. The late onset of optic atrophy may partly explain its apparent rarity. Since the life span of patients with familial dysautonomia is increasing, optic atrophy may be more commonly recognized in the future.
mesh_terms: D000328:Adult; D000367:Age Factors; D004402:Dysautonomia, Familial / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008017:Life Expectancy; D008297:Male; D009887:Ophthalmoscopy; D009896:Optic Atrophy / Q000150:complications* / Q000175:diagnosis