duane syndrome types

After diagnosis, ophthalmologic exams are required every 3-6 months to evaluate for amblyopia. Intrafamilial variation may be less than interfamilial differences. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. You can help advance The in-depth resources contain medical and scientific language that may be hard to understand. Type I Duane syndrome (primary gaze position esotropia with limitation of abduction) comprises most cases. The frequency of Duane syndrome in the general population of individuals with eye movement disorders (strabismus) is approximately 1% … Typically only one eye is affected, though it is possible for both to be compromised. Use the HPO ID to access more in-depth information about a symptom. Aligning the Eyes. 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. Suggested by postmortem studies conducted by M.G. https://pubmed.ncbi.nlm.nih.gov/20301369/, https://pubmed.ncbi.nlm.nih.gov/29133973/, https://pubmed.ncbi.nlm.nih.gov/30516080/, https://pubmed.ncbi.nlm.nih.gov/30574884/. Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. Sixth cranial nerve neuromyotonia mimicking intermittent Duane syndrome type II: case report. 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. This risk, however, is only associated with 10% of isolated cases, as 90% of these cases occur sporadically[5]. 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. Surgical intervention has gradually become more … Hotchkiss, Mary G., Neil R. Miller, Arthur W. Clark, and William R. Green . Optional forced duction testing and/or force generation testing 4. (HPO) . 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. all the symptoms listed. 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. 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). We remove all identifying information when posting a question to protect your privacy. Historically, Duane syndrome has been classified into three types. Duane Retraction Syndrome 1. Race and ethnicity do not play a role in who is affected. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). ... Types … Of the 19, 16 (84%) were male, 15 (79%) had palpebral fissure narrowing, all had anomalous head posture, and 18 (95%) were exotropic. There are three types of Duane syndrome, but the most common is Type I, which interferes with the eye’s ability to move outward (away from the nose). Duane Syndrome is associated with restrictive strabismus, affecting the muscles of the eye. 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 Type 3: Ability to move the eye, or eyes, in both instructions (kidnapping and adduction) is limited. A surgical approach for Duane syndrome. Vol. 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. Es ist bei der Geburt anwesend. The differential diagnosis for Duane Retraction Syndrome includes any condition that demonstrates strabismus or limitations of extraocular movements. 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. Symptoms of this syndrome. Kraft SP. Patients between 7-12 years who are no longer at risk for amblyopia and have good binocular vision can be evaluated annually or biannually. When looking outward toward the ear (abduction), the reverse occurs. Subgroup B: The affected eye is turned outward toward the ear (exotropia). 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. Duane syndrome Types of duane syndrome. Brit. Andrews, Caroline V., David G. Hunter, and Elizabeth C. Engle. 6. Other possible clinical presentation include amblyopia and blepharostenosis. 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. J. Ophthal. Strabismus, Refraction, The Lens. Do you know of a review article? Usually, it’s difficult for the eye to look towards the side, away from the nose. The left eye is more likely to be affected than the right, although doctors still don’t know exactly why. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. Es ist häufiger, dass Menschen mit diesem Syndrom nicht in der Lage sind, ihre Augen nach außen zu ihren Ohren zu bewegen. 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. The HPO collects information on symptoms that have been described in medical resources. 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. 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. This information comes from a database called the Human Phenotype Ontology Das Duane-Syndrom ist eine Bedingung, die die Augenbewegung horizontal einschränkt. 1995;45:108-114. Most cases occur sporadically but others are familial and about 30% of affected individuals have other congenital anomalies. 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. 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 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. [1, 2, 3, 4] What Causes Duane Syndrome? 2010; 152: 215-217. 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). The most common clinical presentation is strabismus because of hypoplasia/atrophy of the lateral rectus muscle. Only 9 (47%) patients were reported to have undergone surgery. In ten percent of Duane syndrome cases, there is also reduced visual acuity in an eye. Duane syndrome type 1 Synonyms Duane Retraction Syndrome 1 Modes of inheritance Autosomal dominant inheritance (HPO, OMIM) Summary Excerpted from the GeneReview: Duane Syndrome. 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. The diagnosis of Duane Retraction Syndrome is primarily clinical. Eighty to ninety percent of cases involve only one eye. Duane’s retraction syndrome (DRS) is also known as Stiling-Turk-Duane syndrome. Involvement of both eyes is less common than one eye only. Single medial rectus recession in unilateral Duane Syndrome type I. Unlike Brown syndrome, DRS can be caused by genetic factors and can be associated with other disorders. 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. Contact a GARD Information Specialist. Three subtypes of Duane syndrome are described: DRS type I: most common; DRS type II; DRS type III Clinical presentation. Duane Syndrome Types of Duane syndrome. For more information on Duane Retraction Syndrome and a video of the surgery to correct the strabismus associated with this syndrome, please click on the following link to Children’s Hopsital Boston’s webcast page: This page was last modified on September 6, 2019, at 13:22. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Duane syndrome (DS) is a rare, congenital disorder of eye movement. 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 HPO Kaban TS, Smith K, Day C, et al. It can also be associated with a turn in either eye in the straight ahead position known as a squint (strabismus). Duane syndrome type 1. 1. Other individuals with Duane syndrome fall … Duane syndrome. 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. 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. Causes of Duane syndrome. In Duane syndrome type 1, eye movement outward is limited. Miyake, Noriko et.al. 2008; 20 (3): 10-14. Duane, Thomas D. Clinical Ophthalmology. The results concluded that botulinum toxin decreases the amount of deviation and leash phenomenon (upshoot or downshoot of globe with adduction). Of the 19, 16 (84%) were male, 15 (79%) had palpebral fissure narrowing, all had anomalous head posture, and 18 (95%) were exotropic. Questions sent to GARD may be posted here if the information could be helpful to others. Duane Retraction Syndrome, also known as Stilling-Turk-Duane Syndrome, was originally described by Alexander Duane in 1905[2]. Sometimes, it also cannot look towards the nose. 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). Duane-radial ray syndrome (DRRS) is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. Br J Ophthalmol. 1945; XXXVIII: 463-465. Duane syndrome type 3 genetics [Source 44)] Subgroups. The eye opening narrows and the eyeball retracts when the affected eye(s) attempts to look inward toward the nose (adduction). Type 3 -- The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. Surgical Management of Duane’s Syndrome. Duane syndrome is usually detected before the age of 10, and is more common in girls than in boys. 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. Talebnejad, Mohammad-Reza, Nima Sahraian, and Masoomeh Eghtedari. 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 … Duane syndrome appears more often in girls than boys, though it is also unclear as to why this is the case. Evaluation should include the following: 1. Huber’s clinical and electromyographical classifications of Duane’s retraction syndrome have been considered to correspond to each other. You have limited ability to move your eye toward your ear. International Ophthalmologists contest rules, http://orlive.com/childrenshospitalboston/videos/aligning-the-eyes, http://icd9.chrisendres.com/index.php?action=child&recordid=3996, http://disorders.eyes.arizona.edu/disorders/duane-retraction-syndrome-1, http://www.ncbi.nlm.nih.gov/books/NBK1190/, https://eyewiki.org/w/index.php?title=Duane_Retraction_Syndrome&oldid=47770, Complete or less often partial absence of abduction, Narrowing of palpebral fissure during adduction (induced ptosis), Oblique movement with attempts at adduction, Upshoot or downshoot of globe with adduction (Leash Phenomenon), Widening of palpebral aperture with abduction, Prevalence of about 1/1000 in general population, Accounts for up to 4% of all strabismus cases, Most common type of congenital aberrant ocular innervation, ~30% of cases are associated with other congenital anomalies, Okihiro's syndrome: Duane syndrome and radial ray defects, Wildervanck syndrome: Duane syndrome, Klippel-Feil anomaly, and deafness, Moebius: congenital paresis of facial and abducens cranial nerves, Holt-Oram syndrome: abnormalities of the upper limbs and heart, Morning Glory syndrome: abnormalities of the optic disc, Goldenhar syndrome: malformation of the jaw, cheek and ear, usually on one side of the face, ~80% of cases occur unilaterally, with a LE predominance. What causes it? My life has completely changed in 15/09/2017. Duane syndrome type 1 comprises 75-80% of patients and 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 28). Unlike unilateral Duane syndrome, bilateral Duane syndrome may be more common in males and associated with a higher prevalence of strabismus in primary gaze position. GeneReviews. Hereditary Ocular Disease. 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. Sometimes, it also cannot look towards the nose. Purpose: To describe the clinical characteristics of bilateral Duane syndrome. is updated regularly. 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. It is commonly seen to affect the left eye and occurs more often in females than males. Neurogenic Theory: more commonly accepted. In most patients, DS is diagnosed by the age of 10 years. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands. The muscles and nerves around your eye don't work well together, and that keeps it from moving as it should. 2009; 13 (3): 245-248. 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 … People with the same disease may not have OR Live. Duane Syndrome. Am Orthoptic J. Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or a thumb that looks like a … 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. 2017;11:1917-1930. Evaluation of family members at risk within the first year of life 7. J. Ophthal. Photographic documentation for future review 5. Unlike unilateral Duane syndrome, bilateral Duane syndrome may be more common in … 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. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). (HPO). 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). Clinically, Duane syndrome is often subdivided into three types, each with associated symptoms. Inheritance of Duane's syndrome. By Dana, Defeating Duane syndrome, France, September 30, 2017. Beeing a congenital condition, it appears early in the fetus life. A total of 350 Duane syndrome cases were identified. [7], EMG Tracing Demonstrating the Neurogenic Theory:[10]. [7], Imaging is not recommended for diagnostic purposes. This is the … If you do not want your question posted, please let us know. [7] [13] It can also improve the leash phenomenon.[7]. 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). Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. Usually, it’s difficult for the eye to look towards the side, away from the nose. Children with Duane syndrome are born with the disorder. About 7% of all Duane syndrome cases are Type 2. Aber es kann auch ihre Fähigkeit beeinflussen, ihre Augen nach innen in Richtung ihrer Nase zu bewegen. Types Of Duane Syndrome And Characteristics SeaGullFoundation. Management of both varies widely. General physical examination to assess for presence of other associated syndromes, including hearing evaluation. Do you have updated information on this disease? Am J Med Genet A. Duane Syndrome: What It Is and Types | Área Oftalmológica Kirkham, T.H. It is a congenital and non-progressive strabismus syndrome[3] characterized by some or all of the following: There are 3 types of Duane Retraction Syndrome with multiple subgroups existing. Arch Ophthalmol. rare disease research! 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). Clin Ophthalmol. Type 3 comprises 10-20% of patients, can present with either an esotropia or exotropia in primary gaze, and will have a compensatory head turn to the involved side. Learning About Duane Syndrome. Results: A total of 350 Duane syndrome cases were identified. Pediatric Ophthalmic Surgery. The clinical features are highly variable making distinction difficult. There are a few different types of Duane’s syndrome. This page has been accessed 164,779 times. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. Day C, et al turn to the uninvolved side the first year of life 7 or.... Are highly variable although intrafamilial differences may be hard to understand associated congenital abnormalities this. 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Nase zu bewegen occur as part of syndromes that affect other areas of the rectus! As part of syndromes that affect other areas of the lateral rectus muscles, as by... Classified into three types: type 1, 2, 3, 4 ] What causes Duane syndrome presents depends., though it is called isolated Duane syndrome ( i.e., they do not correspond to other! Types with autosomal dominant Duane retraction syndrome includes any condition that demonstrates strabismus or of! I and account for 70-80 % of all Duane syndrome is classified into three types eyeball pulls in when inward! The eyes and causes abnormalities of bones in the fetus life american Association for Pediatric Ophthalmology and,! Type 2 person to person Lippincott Williams & amp ; amp ; Wilkins ; 1993 been recently. For 70-80 % of patients and presents with an exotropia in primary gaze with a compensatory head turn the... 13 ] it can also be associated with other disorders features consistent synergistic. 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