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David G. Cogan, MD; Fred C. Chu, MD; Douglas Reingold, MA; John Barranger, MD

Arch Ophthalmol. 1981;99(10):1802-1808.

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 telangiecta

Author Affiliations
From the Clinical Branch, National Eye Institute (Drs Cogan and Chu and Mr Reingold); and the Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Disorders and Stroke, National Institutes of Health, Bethesda, Md (Dr Barranger).

Footnotes
Accepted for publication Sept 4, 1980.

Read before the annual meeting of the American Academy of Pediatric Ophthalmology (Costenbader Lecture), San Diego, April 4, 1980.

Reprint requests to National Institutes of Health, Bldg 10, Room 31S261, Bethesda, MD 20014 (Dr Cogan).

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