Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia

Karen L. Stark, James B. Gibson, Richard W. Hertle, Michael C. Brodsky

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

PURPOSE: To document the evolution of ocular motor abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome. METHODS: Case report. An infant with carbohydrate-deficient glycoprotein syndrome type 1a underwent magnetic resonance imaging and infrared eye movement recording. RESULTS: A 10-month-old male with carbohydrate-deficient glycoprotein syndrome type Ia had rapid horizontal oscillations of the eyes when startled or awakened from sleep. Clinical examination confirmed this finding and disclosed congenital ocular motor apraxia with a reduced vestibulo-ocular reflex. Infrared eye movement recording showed ocular flutter and square wave jerks superimposed on a horizontal pendular nystagmus. Magnetic resonance imaging showed diffuse cerebellar hypoplasia. CONCLUSION: Carbohydrate- deficient glycoprotein syndrome type Ia can be associated with multiple cerebellar eye signs including ocular flutter, square-wave jerks, and congenital ocular motor apraxia. (C) 2000 by Elsevier Science Inc.

Original languageEnglish (US)
Pages (from-to)533-535
Number of pages3
JournalAmerican journal of ophthalmology
Volume130
Issue number4
DOIs
StatePublished - Oct 2000

ASJC Scopus subject areas

  • Ophthalmology

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