• 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 telangiecta
Cogan DG, Chu FC, Reingold D, Barranger J. Ocular Motor Signs in Some Metabolic Diseases. Arch Ophthalmol. 1981;99(10):1802–1808. doi:10.1001/archopht.1981.03930020676010
Customize your JAMA Network experience by selecting one or more topics from the list below.