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

doi:10.1016/S0002-9394(00)00569-9

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

Ophthalmology

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	533-535
Number of pages	3
Journal	American journal of ophthalmology
Volume	130
Issue number	4
DOIs	https://doi.org/10.1016/S0002-9394(00)00569-9
State	Published - Oct 2000

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0002-9394(00)00569-9

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title = "Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia",

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.",

author = "Stark, {Karen L.} and Gibson, {James B.} and Hertle, {Richard W.} and Brodsky, {Michael C.}",

note = "Funding Information: Supported in part by a grant from Research to Prevent Blindness, Inc., New York, New York. ",

year = "2000",

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doi = "10.1016/S0002-9394(00)00569-9",

language = "English (US)",

volume = "130",

pages = "533--535",

journal = "American journal of ophthalmology",

issn = "0002-9394",

publisher = "Elsevier USA",

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T1 - Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia

AU - Stark, Karen L.

AU - Gibson, James B.

AU - Hertle, Richard W.

AU - Brodsky, Michael C.

N1 - Funding Information: Supported in part by a grant from Research to Prevent Blindness, Inc., New York, New York.

PY - 2000/10

Y1 - 2000/10

N2 - 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.

AB - 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.

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

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