title: Ocular motor signs in some metabolic diseases.
abstract: Ocular motor disturbances are described with a miscellany of metabolic disturbances. Horizontal gaze abnormalities, often simulating congenital ocular motor apraxia, characterized Gaucher's disease. Vertical gaze abnormalities, especially downgaze paralysis, characterized what is generally considered a variant of Niemann-Pick disease, or sea-blue histiocytosis, but which we prefer to call the "DAF" syndrome. A form of internuclear ophthalmoplegia but with nystagmus of the adducting eye characterized abetalipoproteinemia. epileptiform eyelid and eye movements occurred in a case of methylmalonohomocystinuria. Ocular motor abnormalities are also described with variation of olivopontocerebellar degeneration and with ataxia telangiectasia.
mesh_terms: D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications / Q000175:diagnosis; D002493:Central Nervous System Diseases / Q000150:complications* / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005133:Eye Movements; D005260:Female; D005776:Gaucher Disease / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D008875:Middle Aged; D009542:Niemann-Pick Diseases / Q000150:complications; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000209:etiology*