| Literature DB >> 7295130 |
D G Cogan, F C Chu, D Reingold, J Barranger.
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.Entities:
Mesh:
Year: 1981 PMID: 7295130 DOI: 10.1001/archopht.1981.03930020676010
Source DB: PubMed Journal: Arch Ophthalmol ISSN: 0003-9950