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 Citations (Scopus)

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
Externally publishedYes

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Pathologic Nystagmus
Eye Movements
Congenital Disorders of Glycosylation
Magnetic Resonance Imaging
Eye Abnormalities
Vestibulo-Ocular Reflex
antineoplaston A10
Sleep
Congenital disorder of glycosylation type 1A
Apraxia, oculomotor, Cogan type
Cerebellar Hypoplasia

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia. / Stark, Karen L.; Gibson, James B.; Hertle, Richard W.; Brodsky, Michael C.

In: American Journal of Ophthalmology, Vol. 130, No. 4, 10.2000, p. 533-535.

Research output: Contribution to journalArticle

Stark, Karen L. ; Gibson, James B. ; Hertle, Richard W. ; Brodsky, Michael C. / Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia. In: American Journal of Ophthalmology. 2000 ; Vol. 130, No. 4. pp. 533-535.
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