Congenital Ocular Motor Apraxia

Update item information
Identifier 162-3
Title Congenital Ocular Motor Apraxia
Ocular Movements Failure to Initiate Voluntary Horizontal Saccadic Eye Movements; Head thrust
Creator Shirley H. Wray, M.D., Ph.D., FRCP, Professor of Neurology Harvard Medical School, Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Contributor Primary Shirley H. Wray, MD, PhD, FRCP, Professor of Neurology, Harvard Medical School; Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Subject Congenital Ocular motor apraxia; Head Thrust
Supplementary Materials PowerPoint Presentation: Ocular Motor Apraxia - The Carol F. Zimmerman Lecture 2007: Shirley H. Wray, M.D., Ph.D., FRCP, Harvard Medical School
Presenting Symptom Jerky head movements
History This baby was born at term after an uneventful pregnancy and normal delivery. He was the first and only child. There was no family history of any This baby was born at term after an uneventful pregnancy and normal delivery. He was the first and only child. There was no family history of any neurological disease. In 1974 he was referred, at the age of 5 months for evaluation of jerky head movements present since birth and, in the first few months of life, he was thought to be blind because he did not follow objects with his eyes. On examination the child had full random horizontal and vertical eye movements but a striking inability to make a voluntary horizontal saccade to look at an object on his right or left side. A neurological examination and funduscopic examination showed no abnormality The head thrust and failure to initiate a voluntary saccade led to the diagnosis of congenital ocular motor apraxia a syndrome first described and named by David Cogan in 1952. Prognosis: Cogan followed a number of the children that he first diagnosed in 1952. In Cogan's Case 1 (AJS), followed to age 9 ½ , it was noted that the child learned to walk with only slightly more difficulty than a normal child and he participated in the usual athletic activities of childhood with little difficulty. The rapid thrusts of the head, which were so disconcerting to parents and physicians, gradually became less noticeable. However, at age 9 ½, the child was unable to read. He was only able to read one word at a time because of an inability to scan the line of print. His mother also observed that he stumbled more than most children especially when he was amongst strangers and he had difficulty in making sharp turns when running or walking. On examination Cogan noted no improvement in the child's ability to initiate a voluntary horizontal saccadic eye movement inspite of the boy having received extensive exercises on learning to control the eyes by looking in a mirror while rotating his body. Of particular interest was the parents' observation that the child appeared to develop a spasm of gaze when commanded to look in one or the other direction. As a consequence his parents had purposely avoided the command "look".
Clinical This infant shows all the characteristic ocular motor signs of congenital ocular motor apraxia (OMA). • Intermittent failure to initiate horizontal saccades to right and left • Rapid head thrusts to fixate a target • When the eyes are looking to the right, in order to fixate a target in primary position, the child thrusts his head to the left to trigger vestibular induced saccades to change gaze. • The head overshoots the position of the target of attention but, once fixation is attained, the head turns back to the primary position. • The sequence of events is completed in a matter of seconds. Tonic lateral deviation of the eyes present on sustained (vestibular) rotation of the body were noted (but are not illustrated on the video). There are three strategies that can be used to initiate horizontal saccades in OMA 1. by using the vestibulo-ocular reflex (VOR) to drag the eyes around 2. by blinks which turn off the omnipause neurons in the pons to allow the excitatory burst neurons to fire and generate a saccadic eye movement and/or 3. by simultaneous elicited eye and head movements which use central head commands to initiate horizontal saccades while suppressing the VOR. In normal subjects head commands usually precede the saccadic command. Children with OMA can learn to read but are slow readers because they have to utilize a head thrust to bring their eyes back to read the beginning of the line. (5)
Neuroimaging N/A
Anatomy The brain generates eye movements by processing information in multiple cortical areas - the eye fields. The frontal eye field generates intentional saccades to visual targets, reflective saccades, memory-guided saccades and anti-saccades. The parietal eye field initiates visuospatial attention by triggering visually guided reflective saccades and disengaging fixation. At the cortical level potential targets for gaze are analyzed and selected and the decision is made to execute a saccadic eye movement from one target to another or a pursuit eye movement to follow a moving target. Apraxia of eye movements is a normal condition in infants during the first few weeks of life. The defect in congenital ocular motor apraxia causing failure to initiate voluntary horizontal saccadic eye movements may reflect disruption or immaturity of descending pathways from both the frontal and parietal eye fields. Genetics: Ocular motor apraxia may occur in association with ataxia in a number of autosomal recessive ataxic disorders of childhood. A number of different genes, which play a role in maintaining the integrity of neuronal DNA, have been identified in these disorders. (See Table 1, Pg 362 ref 6. See also ref 4, 5, 8 and 9).
Etiology Congenital developmental disorder
Disease/Diagnosis Congenital Ocular Motor Apraxia
Treatment There are no eye exercises to correct this ocular motility disorder.
References 1. Cogan DG. A type of congenital ocular motor apraxia presenting jerky head movements. Trans Am Acad Ophthalmol 1952;56:853-858. 2. Cogan DG. Congenital ocular motor apraxia. Canad J Ophthalmol 1966, 1:253-260. 3. Cogan, DG, Chu FC, Reingold D, Tychsen L. A long-term follow-up of congenital ocular motor apraxia Case report. Neuro-ophthalmol 1980;1:145-147. 4. Criscuolo C, Chessa L, DiGiandomenico S, Mancini P, Sacca F, Grieco GS, Piane M, Barbieri F, DeMichele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L. Fill A and Casali C. Ataxia with oculomotor apraxia type 2: a clinical, pathologic and genetic study. Neurology 2006, 66:1207-1210. 5. Leigh RJ, Zee DS. The Neurology of Eye Movements. 4th Ed. Oxford University Press, New York 2006. 6. Onodera O. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Table 1, pg 362. Neuropath 2006;26:361-367. 7. Rambold H, Moser A, Zurowski B, Gbadamosi J, Kompf D, Sprenger A, Helmchen C. Saccade Initiation in ocular motor apraxia. J Neurol 2006;253:950-952. 8. Shahwan A, Byrd PJ, Taylor AMR, Nestor T, Ryan S, King MD. Atypical presentation of ataxia - oculomotor apraxia type 1. Developmental Med and Child Neurol 2006;48:529-432. 9. Tsao CY. Type 1 Ataxia with oculomotor apraxia with aprataxin gene mutations in two American Children. J of Child Neurol 2005, 20:619-620. 10. Zee DS, Yee RD, Singer HS. Congenital oculomotor apraxia. Brain 1977;100:581-600.
Relation is Part of 162-2, 162-5, 162-6
Contributor Secondary Steve Smith, Videographer; Ray Balhorn, Digital Video Compressionist
Reviewer David Zee, M.D., Johns Hopkins Hospital, 2007
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 1974
Type Image/MovingImage
Format video/mp4
Source 16mm tape
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit:
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E, SLC, UT 84112-5890
Collection Neuro-ophthalmology Virtual Education Library: NOVEL
Language eng
ARK ark:/87278/s6dr5s07
Setname ehsl_novel_shw
Date Created 2007-03-08
Date Modified 2017-11-22
ID 188581
Reference URL
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