Kohlhase J et al. Neuropathological evidence comes from autopsies of individuals with DS. Sporadic cases are mostly unilateral while familial ones are more likely to be bilateral. Brown syndrome is an incomitant strabismus condition that falls under the heading of extraocular fibrosis syndromes. 2010 Jan;152A(1):215-7. No evidence of SALL4-mutations in isolated sporadic duane retraction “syndrome” (DURS). However, the clinical features are highly variable although intrafamilial differences may be less than those between families. In Type II Duane syndrome: there is limited or no ability to move the eye inward; the eye has little to no difficulty moving outward; In Type III Duane syndrome: there limited or no ability to move the eye either inward or outward; Because the affected sixth cranial nerve cannot be repaired or replaced, there is no cure for Duane syndrome. 201; 52 :6321-8. Clin Genet. When looking outward toward the ear (abduction), the reverse occurs. Patients should be followed carefully in the first decade of life for the onset of amblyopia and appropriate treatment instituted. Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. Most cases occur sporadically but others are familial and about 30% of affected individuals have other congenital anomalies. 2000; 7: 145-149. Frank strabismus in primary position is evident in as many as 76% of individuals and a compensatory head turn is often adopted. NORD gratefully acknowledges N.J. Gutowski, MD, Consultant Neurologist and Associate Professor, Royal Devon and Exeter Hospital and University of Exeter Medical School, Exeter, UK, for assistance in the preparation of this report. Individuals compensate by tilting their heads backward with the chin elevated in order to see. Hum Mol Genet.1994;3:1859-66. You have limited ability to move your eye toward your nose. PubMed PMID: 15629829. Duane syndrome type 3: The ability to move the affected eye(s) both inward toward the nose (adduction) and outward toward the ear (abduction) is limited. Features of synergistic divergence were observed in 19 patients (5%) with Duane syndrome, 13 of whom were initially diagnosed with type 2 or Duane … Data to support abnormal development of cranial nerve VI (abducens nerve) in DS come from neuropathological, neuroradiological and neurophysiological evidence. Involvement of both eyes (bilateral) is less common than involvement of one eye only (unilateral). Info. O. Tazi, M. Sadaoui, M.A. Extraoccular (outside of the eye) fibrosis syndromes are grouped under incomitant strabismus and include Duane syndrome, Brown syndrome, and the congenital fibrosis of the extraocular muscles (CFEOM) syndromes. Affected eyes have variable ability (from none to normal) to move horizontally and a complete inability to move above the horizontal midline. 2010; 152A: 2342-5. Eur J Neurol. These include Okihiro’s, Wildervanck, Holt-Oram, Goldenhar and Möbius syndromes. Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family. Concomitant strabismus occurs when the misalignment or the angle of deviation between the two eyes remains constant and independent of the direction of gaze. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Ophthalmology 2005;112:109-113. PubMed PMID: 17197533. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. 2010; 77: 499-502. High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. Simple horizontal muscle recession procedures, vertical rectus muscle transposition procedures, or combinations of the two may be successful in improving or eliminating head turns and misalignment of the eyes. The abducens motor neurons and the sixth nerve may be absent or dysplastic. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. In addition, an examination of the cervical (neck) and thoracic (chest) spine, palate (roof of mouth), vertebrae, hands, and a hearing test is recommended to rule out disorders associated with DS. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. The majority of Duane syndrome cases are sporadic in origin, with only approximately 10% of patients showing a familial pattern (running in families). Duane syndrome type 2 refers to marked or complete limitation of adduction with minimal or no limitation of abduction. Mutations in the CHN1 gene are the cause, hyperactivating the a2-chimaerin protein. Type 3. Simple horizont… Duane syndrome is an uncommon congenital disorder of ocular motility with the following characteristics: (1) limitation of abduction of the eye and (2) retraction of the eye into the orbit and consequent narrowing of the palpebral fissure on adduction (Fig. In 2 additional families with Duane retraction syndrome, one Hispanic and the other Caucasian, Engle et al. CFEOM can be sporadic, or inherited in either an autosomal dominant or recessive fashion. Ophthalmology. Am J Ophthalmol.1998;119:807-09. In subgroup B, the affected eye is turned outward toward the ear (exotropia), and in subgroup C, the eyes are in a straight primary position. J Pediatr Ophthalmol Strabismus. DS is also associated with mutations in the CDH2 gene which encodes for the N-cadherin protein. When looking straight, the affected eye may be downward. The chance for a child to receive working genes from both parents is 25%. Duane-radial ray syndrome, also known as Okihiro Syndrome, is a rare autosomal dominant disorder that primarily affects the eyes (Duane anomaly) and causes abnormalities of bones in the arms and hands (radial ray malformations). 2007;48:194-202. Because of the variability in signs, each patient requires individualized treatment. Treatment The standard management of Duane syndrome may involve observation, treatment of amblyopia (such as patching of the better seeing eye) or possibly surgery. Ferrario JE, Baskaran P, Clark C, Hendry A, Lerner O, Hintze M, Allen J, Chilton JK, Guthrie S. Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. Kato Z, Yamagishi A, Kondo N. Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome. Mutations in CHN1 are usually absent in nonfamilial cases of Duane syndrome. 2019;105:854-868. The frequency of DS in the general population of individuals with eye movement disorders (strabismus) is approximately 1-5%. Demer JL, Clark RA, Lim KH, Engle EC. In addition, DS has been reported with chromosomal duplications. 8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. Sato Y, et al. Proc Natl Acad Sci U S A. Acknowledgements and Rights | Admin | Login. The risk is the same for males and females. Loss of MAFB function in humans and mice causes Duane Syndrome, aberrant extraocular muscle innervation, and inner-ear defects. Shopping. Demer JL, Clark RA, Lim KH, et al. People with DS have a limited and sometimes absent ability to move their eye outward toward the ear (ie, abduction), and in most cases, they have a limited ability to move the eye inward toward the nose (ie, adduction). The protein products appear to be involved in early neurological development and are critical to the formation of the cranial nerves that innervate the extraocular muscles. General physical examination to assess for presence of other associated syndromes, including hearing evaluation. Bayrakli F et al. Both dominant (most common) and recessive forms of DS have been documented. Department of Ophthalmology and Vision Science Major anomalies associated with DS can be grouped into five categories: skeletal, auricular (having to do with the ears), ocular (having to do with the eyes) and neural (having to do with the nervous system) and renal (having to do with the kidneys and urinary tract). Recent neuroradiological studies in DS support the postmortem findings and also show, by magnetic resonance imaging (MRI) studies, an absence / failure to develop normally of the abducens nerve (cranial nerve VI). Tischfield MA et al. It presents as an eye movement disorder in which an individual’s affected eye is unable to look inward toward the nose and up. About 7% of all Duane syndrome cases are Type 2. These mutations cause a syndromic neurodevelopmental disorder with global developmental delay and/or intellectual disability, axonal pathfinding defects including corpus callosum agenesis or hypoplasia, associated with ocular, cardiac and genital anomalies. Pedigrees consistent with presumed autosomal recessive inheritance have also been reported but the responsible genes are unknown. Presence of the abducens nerve according to the type of Duane’s retraction syndrome. Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin, CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome, Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus, Clinical diversity of hereditary Duane's retraction syndrome, Presence of the abducens nerve according to the type of Duane's retraction syndrome, Department of Ophthalmology and Vision Science. There are two other types of Duane syndrome as well. Family linkage studies have identified regions containing a gene for CFEOM on chromosomes 11, 12, and 16. Other features include deafness, renal and ocular manifestations. Different clinical types may be present within the same family, suggesting that the same genetic defect may produce a range of clinical presentations. Duane Syndrome is associated with restrictive strabismus, affecting the muscles of the eye. J AAPOS 2011;15 :295-6. Science 2008; 321: 839-843. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. Chan WM et al. Miyake N et al. J Med Genet 2004 Sep;41(9):e113. Mol Cytogenet. Arch Dis Child. Duane's syndrome has three variants: Type I: Limited abduction with or without esotropia Type II: Limited adduction with or without exotropia Type III: Limitation of both abduction and adduction and any form of horizontal strabismus At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction). Of these, 179 patients (51%) had type 1 Duane syndrome; 81 (23%), type 2; and 71 (20%), type 3. Vertical deviation during adduction is sometimes seen. Human CHN1 mutations hyperactivate a2-chimaerin and cause Duane’s retraction syndrome. Read more about symptoms of Duane syndrome type II (Duane retraction syndrome 2) 2013;6:49. In some people, the lateral rectus muscle overcomes the medial rectus muscle in the tug of war, and the eye can move outward but not inward (Duane syndrome Type II). In other cases, neither the lateral nor the medial rectus muscle dominates, and the eye does not move well either inward or outward (Duane syndrome Type III.) 2007;48:5505-11. 2018;94:396-407. Surgery does not eliminate the fundamental abnormality of innervation and no surgical technique has been completely successful in eliminating the abnormal eye movements. Genetic linkage studies of two large DS families (with affected members having type 1 and/or type 3 DS inherited autosomal dominantly) without associated abnormalities established the location of a DS gene on chromosome 2. About 78% of all Duane syndrome cases are Type 1. Duane syndrome type 2: The ability to move the affected eye(s) inward toward the nose (adduction) is limited, whereas the ability to move the eye outward (abduction) is normal or only slightly limited. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. Duane retraction syndrome a congenital ocular motility disorder most commonly characterized by the inability of the eye to abduct, variable limitation of adduction, and globe retraction with narrowing of the palpebral fissure on adduction. Weis A, Bialer MG, Kodsi S. Duane syndrome in association with 48,XXYY karyotype. Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome. In type II, one or both eyes has trouble looking toward the nose. The risk is the same for males and females. Arch Ophthalmol.. 2011; 129 :649-52. DS type 2 is not seen in those with a positive family history nor in those patients where mutations in genes have been found to cause DS; suggesting a different cause. NORD strives to open new assistance programs as funding allows. Still, amblyopia occurs in at least 10% of individuals. Expansion of the CHN1 strabismus phenotype. Gutowski NJ, Bosley T, Engle E. The Congenital Cranial Dysinnervation Disorders (CCDDs). When the presence of DS is suspected, a thorough ocular (eye) examination is required, with special attention to the presence of other ocular or systemic malformations. Deletions of chromosomal material on chromosomes 1, 4, 5 and 8, and the presence of an extra marker chromosome thought to be derived from chromosome 22, have been documented in DS individuals. Duane syndrome (DS) is a rare, congenital disorder of eye movement. Optional forced duction testing and/or force generation testing 4. A total of 350 cases of Duane syndrome were identified. J AAPOS 2006;10:135-42. (2000), Evans et al. Strabismus is a large category of eye movement disorders in which the eyes are not properly yoked together, and one or both eyes are misaligned and cannot be voluntarily controlled. 2002; 11: 2979-2987. Espinasse-Berrod Bilateral Duane syndrome type II • Restrictive syndrome. In some families, an affected individuals’ presentation can range from very mild to the classic presentation described above. Board of Regents on behalf of the abducens motor neurons and the eyeball pulls in when looking,. In when looking inward toward the nose ( esotropia ) including CHD7 clinical... Rare eye disorder some people are born with and aberrant movements 3 been defined M, al.. The same genetic defect may produce duane syndrome type 2 range of clinical presentations characterized by the inability the. • ( 203 ) 744-0100 in other families Science the University of Arizona is an EEO/AA - M/W/D/V.... 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Abnormality of innervation and no surgical technique has been shown to be affected child to receive working genes from parents. Syndrome as well locus to an 8.8cM interval on chromosome 2q31 been seen in diverse ethnic groups at! Programs as funding allows you are able to move outward common than involvement of both eyes has trouble looking the!