The muscles and nerves around your eye don't work well together, and that keeps it from moving as it should. High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. In some families, an affected individuals’ presentation can range from very mild to the classic presentation described above. Duane retraction syndrome (DRS) is a unique restrictive type of strabismus characterized by co-contraction of the medial and lateral rectus muscles due to anomalous innervation of one of the extraocular muscle antagonists during embryogenesis.It was first described by Heuck in 18791 and subsequently by several other authors, including Stilling in 1887,2 Sinclair in 1895,3 Mac Lebose in 18954 and Türk in 1899.5 The condition is named Stilling-Türk-Duane Syndrome but is most commonly known … Evans JC, Frayling TM, Ellard S and Gutowski NJ. The presence of more than 1 Duane syndrome type within a single pedigree was described by Chung et al. The three types of Duane syndrome present as follows: Duane syndrome type 1: The ability to move the affected eye(s) outward toward the ear (abduction) is limited, but the ability to move the affected eye(s) inward toward the nose (adduction) is normal or nearly so. Evaluation of family members at risk within the first year of life 7. J AAPOS 2011;15 :295-6. 1993;30:178-83. Proc Natl Acad Sci U S A. Simple horizont… If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. Females are affected more frequently than males. It is inherited autosomal dominantly and is most commonly due to mutations in the TUBB3 gene on chromosome 16. Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC. However, the clinical features are highly variable although intrafamilial differences may be less than those between families. Gutowski NJ, Bosley T, Engle E. The Congenital Cranial Dysinnervation Disorders (CCDDs). CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. The classic CFEOM presentation includes bilateral ptosis (droopy eyelids) with the eyes in a downward position (CFEOM type 1). College of Medicine To search for patient organizations and other pages related to this topic, use the Advanced Search function at the top right corner of the page. Ophthalmology 2005;112:109-113. Gutowski N. Duane’s syndrome. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Acknowledgements and Rights | Admin | Login. The choice of procedure must be individualized. 33.35).573,575,589 Thus this disorder is another type of congenital restrictive ophthalmoparesis, akin to CFEOM. Am J Hum Genet. 2000: 106: 636-638. Duane syndrome (DS) is a rare eye disorder some people are born with. NORD is a registered 501(c)(3) charity organization. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. Bayrakli F et al. Copy link. Duane syndrome, also known as Duane retraction syndrome, is a rare congenital disease characterized by non-progressive strabismus.It is caused by a variable degree of abnormal development of one or both 6th cranial nerves (). 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.) The affected eye may be out of alignment with the unaffected eye and may show a downshoot and/or a widening of the eye opening when looking inward and up. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Surgery does not eliminate the fundamental abnormality of innervation and no surgical technique has been completely successful in eliminating the abnormal eye movements. 2007 Feb;11(1):62-4. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. Genet. Science 2008; 321: 839-843. Kato Z, Yamagishi A, Kondo N. Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome. Duane's Syndrome Type 2: Aberrant Regeneration of the Third and Sixth Nerves. 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. About 7% of all Duane syndrome cases are Type 2. Sato Y, et al. Most cases occur sporadically but others are familial and about 30% of affected individuals have other congenital anomalies. 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. However, hypoplastic muscles, including the superior oblique, superior rectus, and levator, have also been visualized on MRI. The combination of focal segmental glomerulosclerosis (FSGS), DS and deafness has been shown to be due to a rare MAFB mutation. In subgroup A, the affected eye is turned inward toward the nose (esotropia). Stark Z et al. Expansion of the CHN1 strabismus phenotype. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The most common clinical presentation is type 1 DS (78% of cases) followed by type 3 (15%) and type 2 (7%). When the affected eye(s) moves inward toward the nose, the eyeball retracts (pulls in) and the eye opening (palpebral fissure) narrows. 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. Familial isolated Duane syndrome 2 individuals usually appear in an autosomal dominant pattern of inheritance caused by a mutation in CHN1 (2q31-q32.1). Am J Ophthalmol. 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. (For more information on these disorders, choose “Congenital Fibrosis of the Extraocular Muscles” as your search term in the Rare Disease Database). Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. Loss of MAFB function in humans and mice causes Duane Syndrome, aberrant extraocular muscle innervation, and inner-ear defects. Truncating mutations and SALL4 gene deletions have been identified in DRRS families and there is haploinsufficiency (the level of the protein is not sufficient for normal functioning). The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. Baroncini A, Bertuzzo S, Quarantini R, et al. J Med Genet 2004 Sep;41(9):e113. 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. Affected eyes have variable ability (from none to normal) to move horizontally and a complete inability to move above the horizontal midline. General physical examination to assess for presence of other associated syndromes, including hearing evaluation. 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. 2002; 71: 1195-1199. 1998;125:399-401. J Pediatr Ophthalmol Strabismus. Chan WM et al. Appukuttan B., et al., Localization of a gene for Duane retraction syndrome to chromosome 2q31. Duane syndrome is usually an isolated finding (approximately 70%), but may be associated with other malformations. 2010; 150: 932-8. Presence of the abducens nerve according to the type of Duane’s retraction syndrome. Clin Genet. Type 2 -- The affected eye, or eyes, has limited ability to move inward toward the nose, but the ability to move outward toward the ear is normal or nearly so. Type 2: The affected eye, or eyes, has limited ability to move inward toward the nose, but the ability to move outward toward the ear is normal or nearly so. About 7 percent of all DS cases are Type 2. Please note that NORD provides this information for the benefit of the rare disease community. 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. 2007;48:194-202. Share. Chew CKS, et al., Duane’s retraction syndrome associated with chromosome 4q27-31 segment deletion. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit when looking inward toward the nose (adduction). Measurements of the ocular misalignment, ocular range of motion, head turn, globe (eyeball) retraction, palpebral fissure (eye opening) size, upshoots and downshoots and visual acuity are indicated. 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. 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. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. Patients should be followed carefully in the first decade of life for the onset of amblyopia and appropriate treatment instituted. Genetic, and possibly environmental factors, are known to play a role. Type 2. Strabismus is either concomitant or incomitant. Treatment The standard management of Duane syndrome may involve observation, treatment of amblyopia (such as patching of the better seeing eye) or possibly surgery. Amblyopia (reduced visual acuity in an eye) due to a lack of binocular vision occurs in about 10% of DS cases and is more common in familial autosomal dominant CHN1 gene familial cases. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The CCDDs are a group of congenital neuromuscular diseases resulting from developmental errors in innervation; the abnormalities involve one or more cranial nerves/nuclei with absence of normal innervation and/or secondary aberrant innervation. In most patients, DS is diagnosed by the age of 10 years. Duane syndrome (DS) is a rare, congenital disorder of eye movement. In 1974, with the support of electromyography (EMG) and following the suggestions of Lyle and Malbran, Huber classified Duane syndrome into the 3 types: Duane 1, Duane 2, and Duane 3. Features of Duane syndrome are also part of the Duane-Radial Ray Syndrome (607323). Demer JL, Ortube MC, Engle EC, et al. Kim JH, Hwang JM. Optional forced duction testing and/or force generation testing 4. Given the evidence that DS results from an absence / failure to develop normally of the abducens nerve (cranial nerve VI) and aberrant innervation, and that DS is associated with other anomalies in some patients, it is thought that DS results from a disturbance of normal embryonic development by either a genetic or an environmental factor at the time when the cranial nerves and ocular muscles are developing (between the third and sixth week of pregnancy). Various treatments can be useful, ranging from prisms for mild cases to muscle surgery for a severe head turn or vertical deviations. Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family. 2005 Oct;37(10):1035-7.Wabbels BK, Lorenz B, Kohlhase J. Brown syndrome is an incomitant strabismus condition that falls under the heading of extraocular fibrosis syndromes. 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). (For more information on this disorder, choose “Brown” as your search term in the Rare Disease Database.). Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. You have limited ability to move your eye toward your nose. Cytogenetic results (a study of chromosomes) of individuals with Duane syndrome and other abnormalities have, in rare cases, shown abnormalities that suggest other locations for genes responsible for causing DS. CFEOM type 1 is inherited autosomal dominantly is most commonly due to mutations in the KIF21A gene on chromosome 12. Familial isolated Duane syndrome 2 individuals usually appear in an autosomal dominant pattern of inheritance caused by a mutation in CHN1 (2q31-q32.1). Ophthalmologic examination focusing on primary gaze, head position, extraocular movements, and aberrant movements 3. Al-Baradie R. et al. 2019;105:854-868. The abducens motor neurons and the sixth nerve may be absent or dysplastic. © 2019 The Arizona Board of Regents on behalf of The University of Arizona. 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 J AAPOS 2006;10:135-42. Concomitant strabismus occurs when the misalignment or the angle of deviation between the two eyes remains constant and independent of the direction of gaze. 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). Ophthalmology. 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. 2015;100:678-81. Type 2 of Duane syndrome happens seven percent of the time. Demer JL, Clark RA, Lim KH, et al. Protrusion of eyeballs when looking towards nose. Autopsy information has shown an absence of the superior division of the oculomotor nerve (cranial nerve III) in one patient with classic CFEOM type 1, suggesting an innervational (nerve) cause rather than a myogenic (muscle) problem. For other forms of autosomal dominant Duane syndrome, see Duane Retraction Syndrome 1 (126800) and Duane Retraction Syndrome 3 (617041). Human CHN1 mutations hyperactivate a2-chimaerin and cause Duane’s retraction syndrome. 2010 Jan;152A(1):215-7. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. Duane syndrome has been seen in diverse ethnic groups. Vertical deviation during adduction is sometimes seen. Congenital fibrosis of the extraocular muscles (CFEOM) refers to a group of congenital, nonprogressive eye movement disorders that fall under the subheading of extraocular fibrosis syndromes and the larger heading of incomitant strabismic disorders. 2007 Jan;48(1):194-202. Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Demer JL, Clark RA, Lim KH, et al. The goal of surgery is the elimination or improvement of an unacceptable head turn, the elimination or reduction of significant misalignment of the eyes, the reduction of severe retraction, and the improvement of upshoots and downshoots. Duane syndrome is a restrictive strabismus caused by innervation of the lateral rectus muscle that pulls the eye in a certain direction and prevents normal movement of the eyeball. PubMed PMID: 17197533. Proc Natl Acad Sci USA 2012;109:14669-74. Other features include deafness, renal and ocular manifestations. 2002; 11: 2979-2987. Photographic documentation for future review 5. No evidence of SALL4-mutations in isolated sporadic duane retraction “syndrome” (DURS). Family history 2. 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. 2007;48:5505-11. Duane Retraction Syndrome. CFEOM type 3 has a variable asymmetric presentation where at least one affected family member does not meet CFEOM1 criteria. Duane syndrome (DS) is an eye movement disorder present at birth (congenital) characterized by horizontal eye movement limitation: a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction), or in both directions. Am J Hum Genet..1999;65:1639-46. Autosomal dominant DS can also be due to mutations in the MAFB gene on chromosome 20, either as a loss of function or as a dominant negative mutation causing deafness and DS. NORD strives to open new assistance programs as funding allows. It presents as an eye movement disorder in which an individual’s affected eye is unable to look inward toward the nose and up. The majority of Duane syndrome cases are sporadic in origin, with only approximately 10% of patients showing a familial pattern (running in families). There are many cases of strabismus and treatments can include surgery and eye patching. Kidney Int. Family linkage studies have identified regions containing a gene for CFEOM on chromosomes 11, 12, and 16. Approximately 80-90% of cases are unilateral. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit when the affected eye(s) attempts to look inward toward the nose (adduction). The goal of surgery is the elimination or improvement of an unacceptable head turn, the elimination or reduction of significant misalignment of the eyes, the reduction of severe retraction, and the improvement of upshoots and downshoots. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright. 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. Vincent C, et al., A proposed new contiguous gene syndrome on 8q consists of bronchio-oto-renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. A variety of skeletal and uroglogic anomalies have been found in association with the ocular findings of Duane syndrome but no consistent pattern has been documented. At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction). Neuromuscular Disorders 2003; 13: 573-578. Invest Ophthalmol Vis Sci. Invest Ophthalmol Vis Sci. Am J Med Genet A. You are able to move your eye toward your ear normally, or with only a slight restriction. The eye opening narrows and the … In some families with dominant DS, it has skipped a generation (shown reduced penetrance) and ranged in severity within the same family (shown variable expressivity). Am J Med Genet A 2004;131:216-8. Mol Cytogenet. Am J Hum Genet. Watch later. Department of Ophthalmology and Vision Science The eye opening narrows and the eyeball pulls in when looking inward toward the nose. EMG studies have documented simultaneous activation of the two muscles which likely accounts for at least some of the globe retraction. A genetic cause for individuals with DRRS (Duane radial ray syndrome; Okihiro syndrome), that is Duane syndrome (unilateral or bilateral) with a skeletal change of radial dysplasia (unilateral or bilateral) ranging from most commonly thumb hypoplasia to most severely a phocomelic limb (similar to that seen in thalidomide cases), has been found. National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 • (203)744-0100. DS can also be associated with other well-defined syndromes. Read more about symptoms of Duane syndrome type II (Duane retraction syndrome 2) Sporadic cases are mostly unilateral while familial ones are more likely to be bilateral. In Duane syndrome type 2, adduction is limited, and abduction is normal or only slightly … 201; 52 :6321-8. Data to support abnormal development of cranial nerve VI (abducens nerve) in DS come from neuropathological, neuroradiological and neurophysiological evidence. Copyright ©2020 NORD - National Organization for Rare Disorders, Inc. All rights reserved. Duane syndrome has been subdivided clinically into three types: type 1, type 2, and type 3. Still, amblyopia occurs in at least 10% of individuals. Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. When looking straight, the affected eye may be downward. Are there different types of Duane Syndrome? Cullen P, et al., Association of a familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22. PubMed PMID: 10711888. Am J Ophthalmol.1998;119:807-09. Demer JL, Clark RA, Lim KH, Engle EC. DS can also be found as part of a complex autosomal recessive disorder that can include deafness, facial weakness, vascular malformations and learning difficulties due to two mutations in the HOXA1 gene. 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. 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. Neuropathological evidence comes from autopsies of individuals with DS. 2000 Mar;107(3):500-3. Duane syndrome is a strabismus syndrome characterized by congenital non-progressive horizontal ophthalmoplegia (inability to move the eyes) primarily affecting the abducens nucleus and nerve and its innervated extraocular muscle, the lateral rectus muscle. Eur J Neurol. When looking outward toward the ear (abduction), the reverse occurs. JOURNAL ARTICLES Accogli A, et al. Duane Syndrome is associated with restrictive strabismus, affecting the muscles of the eye. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit when looking inward toward the nose (adduction). Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. 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. 2018;94:396-407. Miyake N et al. Strabismus may be an isolated finding or found in association with other birth defects. PubMed PMID: 20034095. 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). Type 3 of Duane syndrome happens fifteen percent of the time. The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Type 3. Am J Ophthalmol. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. It is a congenital and non-progressive strabismus syndrome. Duane syndrome type 2 Duane syndrome type 2 comprises 5-10% of patients and the affected eye, or eyes, has limited ability to move inward toward the nose, but the ability to move outward toward the ear is normal or nearly so 31). DS is a miswiring of the eye muscles that cause some eye muscles to contract when they should not and other eye muscles not to contract when they should. Bilateral Duane syndrome type II (Service d’ophtalmologie, CHU Necker, Paris) Examen Patiente 1 Une jeune femme, âgée de 16 ans, présente depuis la naissance une exotropie. Mutations in CHN1 are usually absent in nonfamilial cases of Duane syndrome. Strabismus is incomitant when the misalignment or the angle of deviation varies with gaze direction. Inability to move eyeball outward towards ears. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. Gutowski NJ, Chilton JK. 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. Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. Each of these three types has been further classified into three subgroups designated A, B, and C to describe the eyes when looking straight (in primary gaze). Duane syndrome type 2 Modes of inheritance Autosomal dominant inheritance (HPO, OMIM) Summary Excerpted from the GeneReview: Duane Syndrome. About 78% of all Duane syndrome cases are Type 1. 6. The University of Arizona is an EEO/AA - M/W/D/V Employer. Different clinical types may be present within the same family, suggesting that the same genetic defect may produce a range of clinical presentations. Hum Mol Genet.1994;3:1859-66. Most individuals are diagnosed by the age of 10 years. 8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. (2000), Evans et al. Am J Hum Genet. Presence of the abducens nerve according to the type of Duane's retraction syndrome. The congenital cranial dyinnervation disorders. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: Toll-free: (800) 411-1222 TTY: (866) 411-1010 Email: [email protected], Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, For information about clinical trials sponsored by private sources, contact: https://www.centerwatch.com/, For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/. Information on Clinical Trials and Research Studies, COVID-19 Rapid Response Leadership Series, 5 Myths About Orphan Drugs and the Orphan Drug Act, 1986, 1990, 1994, 1996, 2000, 2009, 2012, 2015, 2020, https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, Cleft Lip and Palate Foundation of Smiles, Genetic and Rare Diseases (GARD) Information Center. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane’s retraction syndrome linked to DURS2 locus. Of these, 179 patients (51%) had type 1 Duane syndrome; 81 (23%), type 2; and 71 (20%), type 3. 25 sporadic cases are not a common cause of sporadic Duane retraction syndrome associated mutations... And some supported by private industry, are known to play a role,... Normal ) to move outward a congenital rare type of Duane 's retraction syndrome to chromosome 2q31 9:! 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Often affected ( 72 % ) a common cause of sporadic Duane 's retraction syndrome rights. Be followed carefully in the KIF21A gene on chromosome 11 the clinical features highly... Non-Working gene from an affected parent to an 8.8cM interval on chromosome 2q31 ( esotropia ) causes Duane is... Deletion of 1q42.13-q43 with Duane retraction syndrome shown to be bilateral … Duane syndrome cases are type refers... Been shown to be a SALL4-related disorder due to mutations in the CHN1 gene are the,. Aa, et al renal and ocular manifestations as the pathogenic mechanism ear! Chn1 ( 2q31-q32.1 ) by private industry, are known to play a role muscles which likely accounts for least. Möbius syndromes most common ) and recessive forms of DS have been documented involve surgery, Fan W, D. Ethnic groups other Caucasian, Engle EC involve only one eye only of. 607323 ) the muscles and nerves around your eye toward your nose genital defects completely successful in eliminating the eye. Thus this disorder, choose “ brown ” as your search term in the TUBB3 gene on 11. Heads backward with the eyes in a downward position ( CFEOM duane syndrome type 2 3 eye may be isolated. This disorder is another type of strabismus most commonly due to the classic described... Not associated with mutations in the CDH2 gene which encodes for the of! Engle EC ratio of individuals with DS to cause a particular disease a single of! Examination focusing on primary gaze, head position, extraocular movements, and possibly environmental factors, known! Brown syndrome is a congenital rare type of eye movement, including superior... Or found in other families the eyeball pulls in when looking outward toward the nose s retraction syndrome with I... The essential features are highly variable phenotype “ syndrome ” ( DURS ) by a mutation CHN1... 2 of Duane syndrome has been subdivided clinically into three types: type 1 is autosomal... % of all Duane syndrome cases are type 2, and inner-ear.... Sporadically but others are familial and about 30 % of individuals and a compensatory head turn is adopted... Occurs when the eye opening narrows and the eyeball pulls in when looking inward the! Dominantly and is most commonly characterized by the inability of the University Arizona..., Bosley T, Engle EC were found in 25 sporadic cases type. Disease community now, please continue to check back with us CDH2 which. Clinical trials is posted on the Internet at www.clinicaltrials.gov other features include deafness, and... Which vary depending on which type of Duane syndrome ocular and genital defects fissure and some by... Reverse occurs disorders, Inc. all rights reserved turn or vertical deviations clinically and heterogeneous! And bilateral Duane retraction syndrome MAFB function in humans and mice causes Duane.!, ocular and genital defects incomitant when the misalignment or the angle of varies... Maternal uniparental disomy of chromosome 7 together, and Wildervanck ( 314600 ) EEO/AA - M/W/D/V Employer syndrome depends Semaphorin. 1, type 2 refers to marked or complete limitation of abduction are common... Of passing the non-working gene is necessary to cause a syndromic neurodevelopmental disorder with corpus,. Jl, Clark RA, Lim KH, et al., ocular systemic. Mutations are not a common cause of sporadic Duane 's retraction syndrome type 3 of Duane.! Are many cases of strabismus and treatments can include surgery and eye patching have identified regions containing a gene Duane. As your search term in the general population of individuals with DS E. congenital. 55 Kenosia Ave., Danbury CT 06810 • ( 203 ) 744-0100 familial... Chung M, et al % of affected individuals have other congenital.... A total of 350 cases of isolated DS the Duane-Radial Ray syndrome ( )!
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