Duane's Syndrome

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Identifier 923-5
Title Duane's Syndrome
Ocular Movements Unilateral Limitation of Abduction and Adduction; Attempted Adduction; Deviation of the eye up; Narrowing of the palpebral fissure; Retraction of the eyeball; Attempted Abduction; Widening of the palpebral fissure; Fourth Nerve Palsy
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 Unilateral Duane's Syndrome, Type 3; Fourth Nerve Palsy; Localization of a Gene on Chromosome 2q31; Congenital Cranial Disinnervation Syndrome; Sixth Nerve Palsy; Unilateral Sixth Nerve Palsy; Congenital Duane's Syndrome; Duane's Syndrome
Presenting Symptom Left eye did not move fully
History The patient is a 7 year old boy born two weeks premature with transposition of the major arteries of the heart, four holes in the heart, and an absent spleen. He had cardiac surgery at age 2 days and at age one year and his development was excellent thereafter. At age 6 months, it was noted that the left eye did not move fully. At age 7, a diagnosis of left Duane's Syndrome, Type III was made. Ocular motility of the left eye shows: Limitation of abduction and adduction On attempted adduction: Deviation of the eye up Narrowing of the palpebral fissure Retraction of the eyeball On attempted abduction: Widening of the palpebral fissure On downgaze: Impaired action of the superior oblique muscle (cranial nerve 4). (Overaction of the inferior oblique muscle) Etiology: In recent years a group of genetic disorders of cranial nucleus development have been recognized as the cause of abnormal eye movements in children. These disorders, referred to as Congenital Cranial Disinnervation Syndrome, have the following features: • They are present at birth • Usually non-progressive • Have an autosomal inheritance pattern, that may occur sporadically. • May result from primary disinnervation, from failed or misguided development of neurons or • Result from aberrant innervation during development (i.e. secondary disinnervation). Duane's retraction syndrome results from primary disinnervation due to a failure to develop normal innervation of the lateral rectus muscle which normally abducts the eye. This view was initially based on electromyographic evidence prior to clinicopathological studies. Duane's retraction syndrome occurs in three forms each of which are characterized by narrowing of the palpebral fissure on adduction secondary to retraction of the eye. Type I, the most common, is characterized by limitation of abduction but full adduction. Type II, the eye abducts well but adduction is incomplete. Type III patients show limitation of both abduction and adduction as in this boy. Clinical Diagnosis: The key to clinical diagnosis is identification of retraction of the eyeball, evident as narrowing of the palpebral fissure, on adduction. Retraction is brought out during horizontal saccades or by observing the affected eye from the side during nystagmus induced by optokinetic stimulation. In addition to limitation of horizontal movement (usually abduction) there may also be abnormal "upshoot" or "downshoot" movements as the patient attempts to shift horizontal gaze. This boy was diagnosed with a variant of Duane's retraction syndrome, Type III with associated paresis of the fourth cranial nerve. Duane's syndrome is more common in girls than boys, effects the left eye more than the right eye and may be bilateral. It may be familial and associated with a number of congenital abnormalities as in this boy's case. The children seldom complain of diplopia.
Clinical This little boy with unilateral left-sided type III Duane's retraction syndrome sits with his head turned to the right. The left eye shows: • Limitation of full abduction • Limitation of full adduction On attempted adduction: • Deviation of the eye up • Narrowing of the palpebral fissure • Retraction of the eyeball On attempted abduction: • Widening of the palpebral fissure On downgaze: Impaired action of the superior oblique muscle (cranial nerve 4).
Neuroimaging There are no neuroimaging studies available in this case.
Pathology Neuropathological examination of one patient with unilateral left-sided type I Duane's Syndrome showed an absent left abducens (sixth) nerve. The left lateral rectus muscle was innervated by aberrant branches from the inferior division of the ocular motor nerve. The brainstem showed a reduction in the number of neurons in the left abducens nucleus compared to the number in the normal right abducens nucleus. These remaining cells were thought to be abducens internuclear neurons, since the medial longitudinal fasciculi were intact. Similar autopsy findings were reported in the patient with familial, unilateral Duane type III syndrome. Another patient who had bilateral type III Duane's syndrome lacked both abducens nuclei and nerves. Thus it appears that the limitation of horizontal movement in most cases of Duane's syndrome can be ascribed to agenesis of abducens motor neurons. Failure of abduction is due to lack of innervation of the lateral rectus by the abducens nerve. Absence of the abducens nerve in type I and type III Duane's retraction syndrome has been demonstrated by MRI. The etiology of this disorder may be due to an environmental or tetrogenic event; for example, thalidomide embryopathy between the fourth and eighth weeks of gestation. Linkage studies in one family with Duane's retraction syndrome localized a gene on chromosome 2q31, whereas other studies have identified a region on chromosome 8q13. Thirty to 50% of patients exhibit systemic associations including: 1. Deafness 10% 2. Wildervanck's syndrome (cervico-oculo-acoustic syndrome) consists of Duane's syndrome, a cervical malformation called Klippel-Feil anomaly and deafness. 3. Goldenhar syndrome (oculo-auricular-vertebral dysplasia): consists of epibulbar dermoids, pre-auricular appendages, auricular abnormalities, vertebral abnormalities, and hemifacial microsomia 4. Duane/radial dysplasia syndrome (Okihiro syndrome) 5. Bosley-Salih-Alorainy syndrome: This syndrome is characterized by bilateral Duane's type III, leading to horizontal gaze palsy, bilateral sensorineural hearing loss due to absent cochlea and vestibule, and hypoplasia or agenesis of the internal carotid artery in association with a mutation of HOXA1 gene on chromosome 7.
Disease/Diagnosis Unilateral Left-Sided Type III Duane's Retraction Syndrome
References 1. Appukuttan B, Gillanders E, Juo SH, Freas-Lutz D, Ott S, Sood R, Van Auken A, Bailey-Wilson J, Wang X, Patel RJ, Robbins CM, Chung M, Annett G, Weinberg K, Borchert MS, Trent JM, Brownstein MJ, Stout JT. Localization of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet 1999;65:1639-1646. http://www.ncbi.nlm.nih.gov/pubmed/10577917 2. Bloom JN, Gravis ER, Mardelli PG. A magnetic resonance imaging study of the upshoot-downshoot phenomenon of Duane's retraction syndrome. Am J Ophthalmol 1991;111:548-554. http://www.ncbi.nlm.nih.gov/pubmed/2021160 3. Calabrese G, Telvi L, Capodiferro F. et al. Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb. Eur J Hum Genet 2000;8:319-324. http://www.ncbi.nlm.nih.gov/pubmed/10854090 4. DeRespinis PA, Caputo AR, Wagner RS, Guo S. Duane's retraction syndrome. Surv Ophthalmol. 1993;38:257-288. http://www.ncbi.nlm.nih.gov/pubmed/8310396 5. Engle EC, Leigh JR. Genes, brainstem development and eye movements. Neurology 2002;59:304-305. http://www.ncbi.nlm.nih.gov/pubmed/12177361 6. Hotchkiss MG, Miller NR, Clark AW, Green WR. Bilateral Duane's retraction syndrome. Arch Ophthalmol 1980;98:870-874. http://www.ncbi.nlm.nih.gov/pubmed/7378011 7. Hoyt WF, Nachtigaller H. Anomalies of ocular motor nerves. Neuroanatomic correlates of paradoxical innervation in Duane's syndrome and related congenital ocular motor disorders. Am J Ophthalmol 1965; 60:443-448. http://www.ncbi.nlm.nih.gov/pubmed/5828681 8. Kim JH, Hwang JM. Presence of the abducens nerve according to the type of Duane's retraction syndrome. Ophthalmology 2005;112:109-113. http://www.ncbi.nlm.nih.gov/pubmed/15629829 9. Leigh JR, Zee DS. Diagnosis of Peripheral Ocular Motor Palsies and Strabrismus. Ch 9,385-474. In: The Neurology of Eye Movements. 4th Edition. Oxford University Press, New York 2006. 10. Marshman WE, Schalit G, Jones RB et al Congenital anomalies in patients with Duane retraction syndrome and their relatives. J AAPOS 2000;4:106-109. http://www.ncbi.nlm.nih.gov/pubmed/10773809 11. Miller NR, Kiel SM, Green WR, Clark AW. Unilateral Duane's retraction syndrome (Type 1). Arch Ophthalmol. 1982;100:1468-1472. http://www.ncbi.nlm.nih.gov/pubmed/7115176 12. Miller MT, Stromland K. Ocular motility in thalidomide embryopathy. J Ped Ophthalmol Strabismus 1991;28:47-54. http://www.ncbi.nlm.nih.gov/pubmed/2019959 13. Ozkurt H, Basak M, Oral Y, Ozkurt Y. Magnetic resonance imaging in Duane's retraction syndrome. J Pediatr Ophthalmol Strabismus 2003;40:19-22. http://www.ncbi.nlm.nih.gov/pubmed/12580266 14. Parsa CF, Grant E, Dillon WP Jr. du Lac S, Hoyt WF. Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging. Am J Ophthalmol 1998;125:399-401. http://www.ncbi.nlm.nih.gov/pubmed/9512165 15. Shauly Y, Weissman A, Meyer E. Ocular and systemic characteristics of Duane syndrome. J Ped Ophthalmol Strabismus 1997;30:178-183. http://www.ncbi.nlm.nih.gov/pubmed/8350229 16. Silverberg M, Demer J. Duane's syndrome with compressive denervation of the lateral rectus muscle. Am J Ophthalmol 2001;131:146-148. http://www.ncbi.nlm.nih.gov/pubmed/11162999 17. Zhang F. Clinical features of 201 cases with Duane's retraction syndrome. Chin Med J (Engl), 1997;110:789-791. http://www.ncbi.nlm.nih.gov/pubmed/9642311
Relation is Part of 161-1, 162-7, 169-29
Contributor Secondary Ray Balhorn, Video Compressionist Steve Smith, Videographer
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 1990
Type Image/MovingImage
Format video/mp4
Source 3/4" Umatic master videotape
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
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 http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s64j3bqz
Setname ehsl_novel_shw
Date Created 2005-08-22
Date Modified 2017-11-22
ID 188529
Reference URL https://collections.lib.utah.edu/ark:/87278/s64j3bqz