2005 Oct;37(10):1035-7.Wabbels BK, Lorenz B, Kohlhase J. Al-Baradie R. et al. 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. Copy link. In place of the abducens nerve is a nerve branch from the oculomotor nerve (cranial nerve III) which normally supplies other ocular muscles. The female to male ratio of individuals with DS is approximately 60:40, showing a slightly higher preponderance of female patients. Pedigrees consistent with presumed autosomal recessive inheritance have also been reported but the responsible genes are unknown. 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). 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. PubMed PMID: 20034095. 2007;48:5505-11. Department of Ophthalmology and Vision Science PubMed PMID: 17197533. These include Okihiro’s, Wildervanck, Holt-Oram, Goldenhar and Möbius syndromes. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit when looking inward toward the nose (adduction). However, hypoplastic muscles, including the superior oblique, superior rectus, and levator, have also been visualized on MRI. 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. Neuromuscular Disorders 2003; 13: 573-578. Evaluation of family members at risk within the first year of life 7. Family history 2. Kim, JH, Hwang, J-M. 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). Brown syndrome is an incomitant strabismus condition that falls under the heading of extraocular fibrosis syndromes. Photographic documentation for future review 5. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. Am J Hum Genet. 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. In the absence of other anomalies, it is called isolated Duane syndrome. 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. DS is also associated with mutations in the CDH2 gene which encodes for the N-cadherin protein. 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. 2015;100:678-81. 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. 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. 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). The eye opening narrows and the eyeball pulls in when looking inward toward the nose. Duane's Syndrome Type 2: Aberrant Regeneration of the Third and Sixth Nerves. 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. Demer JL, Clark RA, Lim KH, et al. NORD strives to open new assistance programs as funding allows. JOURNAL ARTICLES Accogli A, et al. Duane syndrome (DS) is a rare, congenital disorder of eye movement. 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. Other features include deafness, renal and ocular manifestations. General physical examination to assess for presence of other associated syndromes, including hearing evaluation. It is a congenital and non-progressive strabismus syndrome. 2010 Jan;152A(1):215-7. CFEOM can be sporadic, or inherited in either an autosomal dominant or recessive fashion. The rarer CFEOM type 2 is inherited autosomal recessively and is due to mutations in the PHOX2A gene on chromosome 11. CFEOM type 1 is inherited autosomal dominantly is most commonly due to mutations in the KIF21A gene on chromosome 12. 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. Arch Dis Child. The abducens motor neurons and the sixth nerve may be absent or dysplastic. 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). About 7% of all Duane syndrome cases are Type 2. Ophthalmology. 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). 2002; 11: 2979-2987. Most individuals are diagnosed by the age of 10 years. © 2019 The Arizona Board of Regents on behalf of The University of Arizona. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. Familial isolated Duane syndrome 2 individuals usually appear in an autosomal dominant pattern of inheritance caused by a mutation in CHN1 (2q31-q32.1). 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). (For more information on these disorders, choose “Congenital Fibrosis of the Extraocular Muscles” as your search term in the Rare Disease Database). Data to support abnormal development of cranial nerve VI (abducens nerve) in DS come from neuropathological, neuroradiological and neurophysiological evidence. Kim JH, Hwang JM. Ferrario JE, Baskaran P, Clark C, et al. In subgroup A, the affected eye is turned inward toward the nose (esotropia). No SALL4 gene mutations were found in 25 sporadic cases of isolated DS. Inability to move eyeball outward towards ears. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. Demer JL, Clark RA, Lim KH, Engle EC. 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. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. 33.35).573,575,589 Thus this disorder is another type of congenital restrictive ophthalmoparesis, akin to CFEOM. The congenital cranial dyinnervation disorders. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane , who discussed the disorder in more detail in 1905. (For more information on this disorder, choose “Brown” as your search term in the Rare Disease Database.). The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. Duane Retraction Syndrome. 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). DS is a congenital cranial dysinnervation disorder (CCDD). When individuals with DS attempt to move their eyes inward, both of these muscles contract at the same time, resulting in the eyeball retracting inward (pulling in) and the eye opening narrowing. 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.) These symptoms are referred to as Duane’s syndrome type I and account for 70-80% of cases. Gutowski NJ, Chilton JK. Most familial cases are not associated with other anomalies. Smith SB, Traboulsi EI. Type 3 of Duane syndrome happens fifteen percent of the time. 2007;48:194-202. The risk is the same for males and females. 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. The risk is the same for males and females. 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. There are many cases of strabismus and treatments can include surgery and eye patching. Am J Med Genet A 2004;131:216-8. Tischfield MA et al. Miyake N, et al. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome. Bayrakli F et al. Affected eyes have variable ability (from none to normal) to move horizontally and a complete inability to move above the horizontal midline. Please note that NORD provides this information for the benefit of the rare disease community. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. 201; 52 :6321-8. Acknowledgements and Rights | Admin | Login. When looking outward toward the ear (abduction), the reverse occurs. Duane syndrome has been seen in diverse ethnic groups. Duane syndrome in the setting of chromosomal duplications. Duane syndrome is often characterized by whether the primary abnormality is a reduced ability to turn the affected eye(s) outward (type I), inward (type II), … Symptoms of Duane syndrome type II (Duane retraction syndrome 2) Some of the symptoms of Duane syndrome type II incude: Widening of eye opening when looking towards nose. In familial DS cases both eyes are more likely to be affected. Mol Cytogenet. Kohlhase J et al. At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction). Demer JL, Ortube MC, Engle EC, et al. 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. The University of Arizona is an EEO/AA - M/W/D/V Employer. Espinasse-Berrod Bilateral Duane syndrome type II • Restrictive syndrome. Watch later. No evidence of SALL4-mutations in isolated sporadic duane retraction “syndrome” (DURS). Concomitant strabismus occurs when the misalignment or the angle of deviation between the two eyes remains constant and independent of the direction of gaze. Approximately 80-90% of cases are unilateral. Duane syndrome has been subdivided clinically into three types: type 1, type 2, and type 3. 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. 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. PubMed PMID: 15629829. Surgery does not eliminate the fundamental abnormality of innervation and no surgical technique has been completely successful in eliminating the abnormal eye movements. It presents as an eye movement disorder in which an individual’s affected eye is unable to look inward toward the nose and up. Type 2. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane’s retraction syndrome linked to DURS2 locus. When looking outward toward the ear (abduction), the reverse occurs. 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). Parsa CF, et al., Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging. Evaluation should include the following: 1. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright. Duane syndrome is usually an isolated finding (approximately 70%), but may be associated with other malformations. Ophthalmology. At one point the syndrome was considered to be a myopathic disorder based on histologic changes in the lateral rectus but current thought based on MRI and neurohistologic studies favors a neuropathic etiology. J AAPOS 2006;10:135-42. Presence of the abducens nerve according to the type of Duane's retraction syndrome. 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. Am J Med Genet.1993;47:925-30. The most common clinical presentation is type 1 DS (78% of cases) followed by type 3 (15%) and type 2 (7%). Treatment The standard management of Duane syndrome may involve observation, treatment of amblyopia (such as patching of the better seeing eye) or possibly surgery. 1993;30:178-83. Strabismus is either concomitant or incomitant. The presence of more than 1 Duane syndrome type within a single pedigree was described by Chung et al. Am J Med Genet A. 2010; 150: 932-8. 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. Am J Ophthalmol.1998;119:807-09. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit when looking inward toward the nose (adduction). Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. You are able to move your eye toward your ear normally, or with only a slight restriction. Individuals compensate by tilting their heads backward with the chin elevated in order to see. 2019;105:854-868. Of these, 179 patients (51%) had type 1 Duane syndrome; 81 (23%), type 2; and 71 (20%), type 3. The classic CFEOM presentation includes bilateral ptosis (droopy eyelids) with the eyes in a downward position (CFEOM type 1). 2005 Jan;112(1):109-13. Clin Genet. Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family. 2002; 71: 1195-1199. Evans JC, Frayling TM, Ellard S and Gutowski NJ. National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 • (203)744-0100. Nat Genet. 2012 Aug 21. (2000), Evans et al. Miyake N et al. (2007) demonstrated linkage of the disorder within the same 8.8-cM interval, with maximum lod scores of 2.1 and 2.3 at D2S2314, respectively. Three heritable types with autosomal dominant familial patterns have also been defined. Protrusion of eyeballs when looking towards nose. Shopping. The eye opening narrows and the eyeball retracts when the affected eye(s) attempts to look inward toward the nose (adduction). CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Hum Genet. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. 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 (). Different clinical types may be present within the same family, suggesting that the same genetic defect may produce a range of clinical presentations. Am J Hum Genet. Info. 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. 2010; 152A: 2342-5. Neuropathological evidence comes from autopsies of individuals with DS. 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/. 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 …

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