Genome.gov. Gobin, M.H. Duane syndrome is found in 1-5% of all cases that involve conditions where both eyes do not line up in the same direction (, expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Other individuals with Duane syndrome fall … It can also be associated with a turn in either eye in the straight ahead position known as a squint (strabismus). Types Of Duane Syndrome And Characteristics SeaGullFoundation. 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. May 2017; Acta Neurologica Belgica 117(1) DOI: 10.1007/s13760-017-0791-x. Duane’s Retraction Syndrome is a type of eye movement disorder that can affect one or both eyes when looking to the right and/or left hand side. You have limited ability to move your eye toward your ear. There are three types of Duane syndrome, with type 1 being the most common: Type 1: Abduction is limited, however adduction is relatively normal. Type 1 comprises 75-80% of patients and presents with an esotropia in primary gaze with a compensatory head turn to the involved side. Duane Syndrome Type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth People with Duane Syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The mean follow-up period was 22 weeks (range: 8 … It presents with a variety of clinical features including diplopia, anisometropia, and amblyopia. Am Orthoptic J. Myogenic Theory: This theory, suggested by earlier studies, indicates there is fibrosis or inelasticity of the lateral rectus muscles and that the medial rectus muscle inserts abnormally far posteriorly. Continue reading to learn about the three major types of Duane syndrome and their characteristics. Sometimes, it also cannot look towards the nose. After daily struggle with Duane syndrome for 30 years I finally won the fight This is my story My name is Dana, I’m Palestinian by blood, Jordanian by passport, born and raised in Dubai, and I live in Paris. Duane syndrome is usually detected before the age of 10, and is more common in girls than in boys. In most patients, DS is diagnosed by the age of 10 years. Duane syndrome is classified into three types: Type 1, Type 2 and Type 3. Surgical intervention has gradually become more … Each of these three types can be further classified into three subgroups, depending on where the eyes are when the individual looks straight (the primary gaze): Subgroup A: The affected eye is turned inward toward the nose (esotropia). The in-depth resources contain medical and scientific language that may be hard to understand. Type 3: Ability to move the eye, or eyes, in both instructions (kidnapping and adduction) is limited. 1974; 58 (301): 301-306. 2004; 88: 131-138. 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), or both (type III). The eye opening narrows and the eyeball pulls in when looking inward toward the nose. 90% occur sporadically and are commonly unilateral, Remaining 10% are inherited and these are commonly bilateral with associated vertical movement abnormalities, Type 2: Autosomal Dominant (mutation of CHN1 gene at DURS 2 locus 2q31-q32.1)[11, 15]and Autosomal Recessive, Okihiro's syndrome: Autosomal Dominant (SALL4 mutations), Goldenhar syndrome: mostly sporadic with both autosomal dominant and recessive forms identified, Wildervanck syndrome: irregularly dominant manner with incomplete penetrance and variable expressivity. Haplotype analysis placed the affected gene in a 17.8-cM region. 2010; 152: 215-217. In the absence of other anomalies, it is called isolated Duane syndrome. 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. 1945; XXXVIII: 463-465. 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). Image Showing Bilateral Duane Retraction Syndrome:[5], Left Panel: limited abduction of right eye with induced ptosis on adduction of left eyeRight Panel: limited abduction of left eye with induced ptosis on adduction of right eye, Duane Retraction Syndrome of Left Eye with Compensatory Head Tilt[11], Molecular genetic testing of CHN1 is available, and is recommended only in familial cases. Type 1, the most common, is characterized by the affected eye’s limited ability to move outwards towards the individual’s ear. Clinically, Duane syndrome is often subdivided into three types, each with associated symptoms. Das Duane-Syndrom ist eine Bedingung, die die Augenbewegung horizontal einschränkt. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. Duane anomaly; Duane retraction syndrome; DRS; Duane anomaly; Duane retraction syndrome; DRS; Stilling-Turk-Duane syndrome, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology The clinical features of the 3 types are similar (as listed below) with the following exceptions: Duane Retraction Syndrome results from an absent or dysplastic abducens motor neurons with aberrant innervations of the lateral rectus muscle by the oculomotor nerve. Type I Duane syndrome (primary gaze position esotropia with limitation of abduction) comprises most cases. After diagnosis, ophthalmologic exams are required every 3-6 months to evaluate for amblyopia. Results: A total of 350 Duane syndrome cases were identified. The only known risk factor of an isolated type of Duane Retraction Syndrome is an affected parent, which leads to a 50% chance of passing the gene onto offspring. Race and ethnicity do not play a role in who is affected. Murillo-Correa, Claudia E., Veronica Kon-Jara, Elizabeth C. Engle, and Juan C. Zenteno. Strabismus, Refraction, The Lens. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands. Duane’s syndrome is a birth disorder affecting the sideward movement of the eyes as the nerve controlling this movement has failed to develop properly. Neurogenic Theory: more commonly accepted. 1980; 98: 870-874. Only 9 (47%) patients were reported to have undergone surgery. Ophthalmologic examination focusing on primary gaze, head position, extraocular movements, and aberrant movements 3. About 78% of all Duane syndrome cases are Type 1. Of these, 19 (5%) had features consistent with synergistic divergence, or type 4 Duane syndrome. Br J Ophthalmol. Intrafamilial variation may be less than interfamilial differences. Type 2 comprises 5-10% of patients and presents with an exotropia in primary gaze with a compensatory head turn to the uninvolved side. The clinical features are highly variable making distinction difficult. is updated regularly. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. Historically, Duane syndrome has been classified into three types. Kekunnaya R, Negalur M. Duane retraction syndrome: causes, effects and management strategies. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Causes of Duane syndrome. Evaluation should include the following: 1. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). University of Arizona Department of Ophthalmology and Vision Science. 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. Pediatric Ophthalmic Surgery. J. Ophthal. Usually, it’s difficult for the eye to look towards the side, away from the nose. rare disease research! 6. Duane Retraction Syndrome is a congenital strabismus syndrome occurring in isolated or syndromic forms. A simplified approach to the treatment of Duane’s syndrome. 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. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. Duane Syndrome - types. American Association for Pediatric Ophthalmology and Strabismus, National Human Genome Research Institute's, Online Mendelian Inheritance in Man (OMIM). Methods: Retrospective medical record review (1982 to 2003) for patients with a diagnosis of Duane syndrome (examined by a pediatric ophthalmologist) who were bilaterally affected and had no prior ocular surgery. In Duane syndrome type 1, eye movement outward is limited. This is the … Questions sent to GARD may be posted here if the information could be helpful to others. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. A total of 350 Duane syndrome cases were identified. GeneReviews. A disturbance in embryologic development between weeks 4-8 results in an absent abducens nerve with anomalous innervations of the lateral rectus muscle by a branch of the oculomotor nerve. Sixth cranial nerve neuromyotonia mimicking intermittent Duane syndrome type II: case report. (1999) demonstrated linkage to 2q31 (maximum lod score = 11.73 at theta = 0.0 for D2S2314). Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. Inheritance of Duane's syndrome. The frequency of Duane syndrome in the general population of individuals with eye movement disorders (strabismus) is approximately 1% … Es ist häufiger, dass Menschen mit diesem Syndrom nicht in der Lage sind, ihre Augen nach außen zu ihren Ohren zu bewegen. Of these, 19 (5%) had features consistent with synergistic divergence, or type 4 Duane syndrome. Andrews, Caroline V., David G. Hunter, and Elizabeth C. Engle. Brain and orbital MRI can be completed prior to surgical correction for better visualization of orbital anatomy.[7]. About 7% of all Duane syndrome cases are Type 2. An affected parent is also a risk factor for the syndromic forms; however, the chance of passing a gene onto offspring varies according to the syndrome. Duane syndrome (DS) is a rare eye disorder some people are born with. Patients with type 2 discussed here are more likely to have an exotropia with a head turn toward the uninvolved side when only one eye is involved compared with Duane syndrome type 1 in which an esotropia with a head turn to the involved side is more common. How is hypertropia diagnosed? Studies show that the diagnose is set around the age of 10 in most cases. We want to hear from you. 01.05.2013 | Letter to the Editor | Ausgabe 5/2013 Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome What causes it? The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). The ability to adduct in this type is absent to restricted as compared to normal to mildly restricted in types 1 and 2. Duane Retraction Syndrome, also known as Stilling-Turk-Duane Syndrome, was originally described by Alexander Duane in 1905[2]. Duane’s retraction syndrome (DRS) is also known as Stiling-Turk-Duane syndrome. These symptoms are referred to as Duane’s syndrome type I and account for 70-80% of cases. It is commonly seen to affect the left eye and occurs more often in females than males. Type IV Duane syndrome has been called simultaneous abduction, synergistic divergence, the “splits”, and perversion of the extraocular muscles.1,3,6,7 Type IV Duane syndrome has previously been described in the literature, but only case reports have been reported. J. Ophthal. When looking outward toward the ear (abduction), the reverse occurs. Duane Syndrome Types of Duane syndrome. About 7% of all Duane syndrome cases are Type 2. We remove all identifying information when posting a question to protect your privacy. Duane, Thomas D. Clinical Ophthalmology. Involvement of both eyes is less common than one eye only. Duane syndrome is when one or sometimes both eyes don’t turn to the side very well and the eyelids open and close as the eyes try to turn. Duane Syndrome. However, the clinical features are highly variable although intrafamilial differences may be less than those between families. Duane syndrome encompasses a spectrum of strabismus entities that have as common features misinnervation and cocontraction of extraocular muscles in addition to enophthalmos with palpebral fissure narrowing.1, 2, 3 Other findings include an abnormal compensatory head posture and vertical up- or downshoots. Type 2: Adduction is restricted, however kidnapping is fairly normal. Beeing a congenital condition, it appears early in the fetus life. Surgery cannot cure Duane Retraction Syndrome, but it can correct for the deviation in the primary position, thereby improving a compensatory head position that can occur in some individuals. [1, 2, 3, 4] What Causes Duane Syndrome? Duane syndrome is when one or sometimes both eyes don’t turn to the side very well and the eyelids open and close as the eyes try to turn. 1988;25:119-130. There are a few different types of Duane’s syndrome. 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. Abnormal vertebral segmentation and fusion, Abnormality of cardiovascular system morphology, Two eyes that don't line up in the same direction (, Limited ability to move the eye from side to side, Retracted eyeball (pulled back into the socket). 2017;11:1917-1930. Hotchkiss and coauthors from the John Hopkins University in 1980. 1995;45:108-114. Management of Duane’s Syndrome with Botulinum Toxin Injection. Huber’s clinical and electromyographical classifications of Duane’s retraction syndrome have been considered to correspond to each other. The most common clinical presentation is strabismus because of hypoplasia/atrophy of the lateral rectus muscle. How Duane syndrome presents itself depends on the type the individual has. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. 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. Unlike Brown syndrome, DRS can be caused by genetic factors and can be associated with other disorders. We want to hear from you. Contact a GARD Information Specialist. Vol. Duane syndrome (DS) is a rare, congenital disorder of eye movement. There are two other types of Duane syndrome as well. Do you know of a review article? 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. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit when looking inward toward the nose (adduction). Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. Talebnejad, Mohammad-Reza, Nima Sahraian, and Masoomeh Eghtedari. General physical examination to assess for presence of other associated syndromes, including hearing evaluation. Barbe, M E, W E Scott, and P J Kutschke. Type 3 -- The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. Type I is the most common form of Duane syndrome, and affected patients will characteristically have a head turn towards the involved side, and will appear esotropic (crossed-eye) in straight ahead gaze. This includes, but is not limited to, Okihiro’s syndrome, Goldenhar syndrome, Wildervanck syndrome, Moebius Syndrome, Holt-Oram Syndrome, Morning Glory Syndrome, Abducens Nerve Palsy, Brown Syndrome, Marcus Gunn Jaw Winking Syndrome, and Congenital Esotropia. 604356 - DUANE RETRACTION SYNDROME 2; DURS2 In a large 4-generation Mexican family with autosomal dominant Duane retraction syndrome, Appukuttan et al. Family history 2. Duane syndrome appears more often in girls than boys, though it is also unclear as to why this is the case. CHN1 Mutations are not a Common Cause of Sporadic Duane’s Retraction Syndrome. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands. ... Types … However, cases that do not correspond to these classifications have been reported recently. Bilateral Duane's Retraction Syndrome A Clinical-Pathologic Case Report. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Unlike unilateral Duane syndrome, bilateral Duane syndrome may be more common in … (HPO). Do you have updated information on this disease? Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. Kirkham, T.H. an abnormal head position greater than or equal to 15 degrees, a significant deviation in the primary position, Severe induced ptosis: a reduction of greater than or equal to 50% of the width of the palpebral fissure on adduction, Consider brain and orbital MRI for better visualization of orbital anatomy, Forced duction testing to confirm tightness of the horizontal rectus muscles, For types 1 and 3 with head turn: recession of medial rectus muscle or horizontal transposition of vertical rectus muscles, For types 1 and 3 with Leash Phenomenon and/or severe globe retraction: recession of both medial and lateral rectus muscles with possible Y-splitting of the lateral rectus muscle, For type 2 with head turn and fixation with uninvolved eye: recession of ipsilateral lateral rectus muscle, For type 2 with head turn and fixation with involved eye: recession of contralateral lateral rectus muscle, For type 2 with Leash Phenomenon: recession of lateral rectus muscle with possible Y-splitting, Undercorrection of primary position esotropia and the compensatory head turn, Overcorrection leading to secondary exotropia, New vertical deviations can occur after vertical rectus transposition procedures. Aligning the Eyes. Clin Ophthalmol. 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. 1970; 54 : 323-329. Duane syndrome can usually affects just one eye, but it can sometimes involve both. Philadelphia, PA: Lippincott Williams & Wilkins; 1994. A patient should be considered for surgical correction if he or she has at least one of the following characteristics: The Academy uses cookies to analyze performance and provide relevant personalized content to users of our website. Duane syndrome, also called Duane's syndrome, is a rare eye disorder some people have at birth. Duane syndrome — which is also known as Duane’s syndrome or Duane retraction syndrome — is a rare form of strabismus, or misalignment of the eye. Strabismus: 76% of individuals have frank strabismus in primary gaze, Amblyopia occurs in about 10% of individuals and will respond to standard therapy if detected early, Good Visual Acuity (except in those with amblyopia), Ophthalmologic examination focusing on primary gaze, head position, extraocular movements, and aberrant movements, Optional forced duction testing and/or force generation testing, Photographic documentation for future review. Duane syndrome Types of duane syndrome. Proceedings of the Royal Society of Medicine. Duane syndrome type 1. Duane Retraction Syndrome 1. Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal dominant Duane retraction syndrome. The results concluded that botulinum toxin decreases the amount of deviation and leash phenomenon (upshoot or downshoot of globe with adduction). Duane syndrome is also known as Duane reaction syndrome (DRS), DR syndrome, Duane radial ray syndrome (DRRS), Duane’s retraction syndrome, eye retraction syndrome, retraction syndrome and Stilling-Turk-Duane syndrome. Type 1: The affected eye, or eyes, has limited ability to move outward toward the ear, but the ability to move inward toward the nose is normal or nearly so. 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 left eye is more likely to be affected than the right, although doctors still don’t know exactly why. J Pediatr Ophthalmol Strabismus. Of the 19, 16 (84%) were male, 15 (79%) had palpebral fissure narrowing, all had anomalous head posture, and 18 (95%) were exotropic. Simultaneous activation of the medial and lateral rectus muscles, as demonstrated by EMG studies, may be the cause of global retraction. United States. 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 … Belgica 117 ( 1 ) DOI: 10.1007/s13760-017-0791-x ( exotropia ) cases type! France, September 30, 2017 4 ] What causes Duane syndrome mimicking Duane... In either eye in the arms and hands restrictive strabismus, National Human Genome Institute... Id to access more in-depth information about symptoms of this disease Duane (... 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