duane syndrome types

Iranian Journal of Ophthalmology. 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. 1988;25:119-130. 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. How Duane syndrome presents itself depends on the type the individual has. J. Ophthal. About 7% of all Duane syndrome cases are Type 2. The frequency of Duane syndrome in the general population of individuals with eye movement disorders (strabismus) is approximately 1% … This table lists symptoms that people with this disease may have. Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or a thumb that looks like a … The diagnosis of Duane Retraction Syndrome is primarily clinical. Evaluation of family members at risk within the first year of life 7. Aligning the Eyes. Other possible clinical presentation include amblyopia and blepharostenosis. Duane Retraction Syndrome occurs sporadically or is inherited. Gobin, M.H. Suggested by postmortem studies conducted by M.G. All three types of Duane’s syndrome are associated with other vertical movement anomalies, which are characterized by changes in the ocular axes. Studies show that the diagnose is set around the age of 10 in most cases. Duane syndrome type 3 genetics [Source 44)] Subgroups. Duane syndrome can usually affects just one eye, but it can sometimes involve both. Aber es kann auch ihre Fähigkeit beeinflussen, ihre Augen nach innen in Richtung ihrer Nase zu bewegen. There are a few different types of Duane’s syndrome. Type 1, the most common, is characterized by the affected eye’s limited ability to move outwards towards the individual’s ear. The most common clinical presentation is strabismus because of hypoplasia/atrophy of the lateral rectus muscle. 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. rare disease research! General physical examination to assess for presence of other associated syndromes, including hearing evaluation. My life has completely changed in 15/09/2017. I'm 31 years old; I'm a freelance journalist and a PHD student. There are two other types of Duane syndrome as well. Hotchkiss, Mary G., Neil R. Miller, Arthur W. Clark, and William R. Green . About 78% of all Duane syndrome cases are Type 1. It can also be associated with a turn in either eye in the straight ahead position known as a squint (strabismus). The clinical features are highly variable making distinction difficult. You have limited ability to move your eye toward your ear. Duane syndrome (DS) is a rare eye disorder some people are born with. Duane Syndrome Types of Duane syndrome. In the absence of other anomalies, it is called isolated Duane syndrome. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. Contact a GARD Information Specialist. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit when looking inward toward the nose (adduction). It presents with a variety of clinical features including diplopia, anisometropia, and amblyopia. Vol. May 2017; Acta Neurologica Belgica 117(1) DOI: 10.1007/s13760-017-0791-x. Continue reading to learn about the three major types of Duane syndrome and their characteristics. The mean follow-up period was 22 weeks (range: 8 … In addition, three types with autosomal dominant inheritance have been defined. Hotchkiss and coauthors from the John Hopkins University in 1980. Kraft SP. 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. 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. 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). 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. Duane’s retraction syndrome (DRS) is also known as Stiling-Turk-Duane syndrome. Of these, 19 (5%) had features consistent with synergistic divergence, or type 4 Duane syndrome. Simultaneous activation of the medial and lateral rectus muscles, as demonstrated by EMG studies, may be the cause of global retraction. American Association for Pediatric Ophthalmology and Strabismus, National Human Genome Research Institute's, Online Mendelian Inheritance in Man (OMIM). 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. 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 … Type 3 Duane retraction syndrome was the most common (56 patients [77%]), followed by type 1 (14 patients [19%]) and type 2 (1 patient [1.3%]). Elliot, A.J. 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). People with the same disease may not have The results concluded that botulinum toxin decreases the amount of deviation and leash phenomenon (upshoot or downshoot of globe with adduction). 1980; 98: 870-874. Brain and orbital MRI can be completed prior to surgical correction for better visualization of orbital anatomy.[7]. Management of Duane’s Syndrome with Botulinum Toxin Injection. Typically only one eye is affected, though it is possible for both to be compromised. Purpose: To describe the clinical characteristics of bilateral Duane syndrome. Clin Ophthalmol. The muscles and nerves around your eye don't work well together, and that keeps it from moving as it should. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Evaluation should include the following: 1. This page has been accessed 164,779 times. is updated regularly. In type II, one or both eyes has trouble looking toward the nose. Genome.gov. Do you know of a review article? The ability to adduct in this type is absent to restricted as compared to normal to mildly restricted in types 1 and 2. The in-depth resources contain medical and scientific language that may be hard to understand. Questions sent to GARD may be posted here if the information could be helpful to others. A surgical approach for Duane syndrome. Duane syndrome, also called Duane's syndrome, is a rare eye disorder some people have at birth. Only 9 (47%) patients were reported to have undergone surgery. 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 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. Most cases occur sporadically but others are familial and about 30% of affected individuals have other congenital anomalies. You may want to review these resources with a medical professional. 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. Vol. 604356 - DUANE RETRACTION SYNDROME 2; DURS2 In a large 4-generation Mexican family with autosomal dominant Duane retraction syndrome, Appukuttan et al. Brit. Proceedings of the Royal Society of Medicine. Surgical intervention has gradually become more … 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). Of these, 19 (5%) had features consistent with synergistic divergence, or type 4 Duane syndrome. 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. Am Orthoptic J. When one eye is affected, the left eye is affected in seventy two percent of the time. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Duane syndrome is classified into three types: Type 1, Type 2 and Type 3. Historically, Duane syndrome has been classified into three types. We want to hear from you. Race and ethnicity do not play a role in who is affected. Pediatric Ophthalmic Surgery. Unilateral type 3 Duane retraction syndrome was seen in 56 (77%) patients and type 1 in 14 (19%) patients. 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. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. Learning About Duane Syndrome. Children with Duane syndrome are born with the disorder. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands. 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 (). OR Live. Unlike Brown syndrome, DRS can be caused by genetic factors and can be associated with other disorders. Duane syndrome. Evaluation of family members at risk within the first year of life, Consider genetics counseling if familial pattern identified, Spectacles or contact lenses for refractive error, Prism glasses to improve the compensatory head position. Do you have more information about symptoms of this disease? Photographic documentation for future review 5. 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. Types Of Duane Syndrome And Characteristics SeaGullFoundation. 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. J AAPOS. How Duane syndrome presents itself depends on the type the individual has. It is a congenital and non-progressive strabismus 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. Have a question? 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. Where most forms of strabismus leave side-to-side eye movements intact, in Duane syndrome the “wiring” of the eye muscles gets jumbled, and movement of eye(s) is limited in certain directions. 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. 2008; 20 (3): 10-14. Approximately 50% of patients with type I Duane syndrome are orthophoric in primary gaze. Type I Duane syndrome (primary gaze position esotropia with limitation of abduction) comprises most cases. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. 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. 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 Botulinum Toxin: A study published in the Iranian Journal of Ophthalmology in 2008 investigated the efficacy of injecting botulinum toxin A as a treatment in 4 patients. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. 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 … Haplotype analysis placed the affected gene in a 17.8-cM region. You can help advance Children’s Hospital Boston. General physical examination to assess for presence of other associated syndromes, including hearing evaluation. Other individuals with Duane syndrome fall … 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’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. These resources provide more information about this condition or associated symptoms. Of the 19, 16 (84%) were male, 15 (79%) had palpebral fissure narrowing, all had anomalous head posture, and 18 (95%) were exotropic. About 7% of all Duane syndrome cases are Type 2. Duane syndrome (DS) is a rare, congenital disorder of eye movement. 1995;45:108-114. The HPO We want to hear from you. Duane's Retraction Syndrome. Use the HPO ID to access more in-depth information about a symptom. By Dana, Defeating Duane syndrome, France, September 30, 2017. Optional forced duction testing and/or force generation testing 4. Type 2: Adduction is restricted, however kidnapping is fairly normal. Three subtypes of Duane syndrome are described: DRS type I: most common; DRS type II; DRS type III Clinical presentation. Presents with an I126M α2-chimaerin mutation in a 17.8-cM region vision can be associated with duane syndrome types... Example, Duane-radial ray syndrome ( DS ) is a congenital strabismus syndrome occurring in isolated syndromic. 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