Kaban TS, Smith K, Day C, et al. Sixth cranial nerve neuromyotonia mimicking intermittent Duane syndrome type II: case report. Duane syndrome appears more often in girls than boys, though it is also unclear as to why this is the case. Am J Med Genet A. 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. 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 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. Duane Retraction Syndrome is a congenital strabismus syndrome occurring in isolated or syndromic forms. General physical examination to assess for presence of other associated syndromes, including hearing evaluation. The HPO You have limited ability to move your eye toward your ear. People with Duane syndrome fail to develop a cranial nerve called the abducens nerve. There are a few different types of Duane’s syndrome. It can also be associated with a turn in either eye in the straight ahead position known as a squint (strabismus). This page has been accessed 164,779 times. Duane’s retraction syndrome (DRS) is also known as Stiling-Turk-Duane syndrome. In ten percent of Duane syndrome cases, there is also reduced visual acuity in an eye. Bilateral Duane's Retraction Syndrome A Clinical-Pathologic Case Report. Eighty to ninety percent of cases involve only one 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. Esotropia is the most common type of strabismus encountered, and characteristic upshoots and downshoots occur in adduction. CHN1 Mutations are not a Common Cause of Sporadic Duane’s Retraction Syndrome. Do you have updated information on this disease? [7] [13] It can also improve the leash phenomenon.[7]. 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). Continue reading to learn about the three major types of Duane syndrome and their characteristics. Am Orthoptic J. You can help advance No means of primary prevention has been identified for this 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. Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. 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. Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or a thumb that looks like a … Of the 19, 16 (84%) were male, 15 (79%) had palpebral fissure narrowing, all had anomalous head posture, and 18 (95%) were exotropic. Intrafamilial variation may be less than interfamilial differences. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Learning About Duane Syndrome. Beeing a congenital condition, it appears early in the fetus life. 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). Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. Photographic documentation for future review 5. In the absence of other anomalies, it is called isolated Duane syndrome. Hotchkiss and coauthors from the John Hopkins University in 1980. Purpose: To describe the clinical characteristics of bilateral Duane syndrome. How can we make GARD better? 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%]). ... Types … 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. Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal dominant Duane retraction syndrome. 2004; 88: 131-138. 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. Es ist häufiger, dass Menschen mit diesem Syndrom nicht in der Lage sind, ihre Augen nach außen zu ihren Ohren zu bewegen. Single medial rectus recession in unilateral Duane Syndrome type I. Unilateral type 3 Duane retraction syndrome was seen in 56 (77%) patients and type 1 in 14 (19%) patients. Vol. This table lists symptoms that people with this disease may have. J. Ophthal. Duane Syndrome Types of Duane syndrome. Usually, it’s difficult for the eye to look towards the side, away from the nose. Type 2 comprises 5-10% of patients and presents with an exotropia in primary gaze with a compensatory head turn to the uninvolved side. Duane syndrome type 3 genetics [Source 44)] Subgroups. Most cases occur sporadically but others are familial and about 30% of affected individuals have other congenital anomalies. 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. In most patients, DS is diagnosed by the age of 10 years. Proceedings of the Royal Society of Medicine. Pediatric Ophthalmic Surgery. 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. Evaluation should include the following: 1. For most diseases, symptoms will vary from person to person. In addition, three types with autosomal dominant inheritance have been defined. The muscles and nerves around your eye don't … 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). 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. The results concluded that botulinum toxin decreases the amount of deviation and leash phenomenon (upshoot or downshoot of globe with adduction). 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). Causes of Duane syndrome. United States. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. The differential diagnosis for Duane Retraction Syndrome includes any condition that demonstrates strabismus or limitations of extraocular movements. Br J Ophthalmol. 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. 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% … Duane Retraction Syndrome 1. Children’s Hospital Boston. Clin Ophthalmol. 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). Of these, 19 (5%) had features consistent with synergistic divergence, or type 4 Duane syndrome. 1. Duane syndrome Types of duane syndrome. 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 … 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). The most common clinical presentation is strabismus because of hypoplasia/atrophy of the lateral rectus muscle. The eye opening narrows and the eyeball retracts when the affected eye(s) attempts to look inward toward the nose (adduction). GeneReviews. 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 following list includes the most common signs and symptoms in people with Duane, Birth defect that causes a hole in the innermost layer at the back of the eye, Involuntary, rapid, rhythmic eye movements, Narrowing of passageway from outer ear to middle ear, It has been estimated that approximately 1 in 1000 and 1 in 10,000 people worldwide have Duane syndrome. A surgical approach for Duane syndrome. The in-depth resources contain medical and scientific language that may be hard to understand. 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. We want to hear from you. This risk, however, is only associated with 10% of isolated cases, as 90% of these cases occur sporadically[5]. 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). In Duane syndrome type 1, eye movement outward is limited. Murillo-Correa, Claudia E., Veronica Kon-Jara, Elizabeth C. Engle, and Juan C. Zenteno. Miyake, Noriko et.al. The ability to adduct in this type is absent to restricted as compared to normal to mildly restricted in types 1 and 2. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Of the 19, 16 (84%) were male, 15 (79%) had palpebral fissure narrowing, all had anomalous head posture, and 18 (95%) were exotropic. 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. About 15% of all Duane syndrome cases are Type 3. My life has completely changed in 15/09/2017. Type 3: Ability to move the eye, or eyes, in both instructions (kidnapping and adduction) is limited. Usually, it’s difficult for the eye to look towards the side, 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. The muscles and nerves around your eye don't work well together, and that keeps it from moving as it should. Do you know of a review article? 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. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit when looking inward toward the nose (adduction). Other names for this condition include: Duane’s retraction syndrome, eye retraction syndrome, retraction syndrome, congenital retraction syndrome and Stilling-Türk-Duane syndrome. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Haplotype analysis placed the affected gene in a 17.8-cM region. Aber es kann auch ihre Fähigkeit beeinflussen, ihre Augen nach innen in Richtung ihrer Nase zu bewegen. Contact a GARD Information Specialist. Strabismus, Refraction, The Lens. Elliot, A.J. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. Kirkham, T.H. Vol. It is a congenital and non-progressive strabismus syndrome. Genome.gov. (1999) demonstrated linkage to 2q31 (maximum lod score = 11.73 at theta = 0.0 for D2S2314). However, the clinical features are highly variable although intrafamilial differences may be less than those between families. Studies show that the diagnose is set around the age of 10 in most cases. The clinical features are highly variable making distinction difficult. Only 9 (47%) patients were reported to have undergone surgery. 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. How Duane syndrome presents itself depends on the type the individual has. 2010; 152: 215-217. (HPO). I'm 31 years old; I'm a freelance journalist and a PHD student. (HPO) . Gobin, M.H. Duane, Thomas D. Clinical Ophthalmology. National Human Genome Research Institute. Type 1 comprises 75-80% of patients and presents with an esotropia in primary gaze with a compensatory head turn to the involved side. Patients between 7-12 years who are no longer at risk for amblyopia and have good binocular vision can be evaluated annually or biannually. 01.05.2013 | Letter to the Editor | Ausgabe 5/2013 Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome Huber’s clinical and electromyographical classifications of Duane’s retraction syndrome have been considered to correspond to each other. Duane syndrome is usually detected before the age of 10, and is more common in girls than in boys. Aligning the Eyes. 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 (). 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/. Three subtypes of Duane syndrome are described: DRS type I: most common; DRS type II; DRS type III Clinical presentation. Kraft SP. When looking outward toward the ear (abduction), the reverse occurs. J Pediatr Ophthalmol Strabismus. Duane, Thomas D. Clinical Ophthalmology. Iranian Journal of Ophthalmology. [7], EMG Tracing Demonstrating the Neurogenic Theory:[10]. 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. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. You may want to review these resources with a medical professional. 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. 604356 - DUANE RETRACTION SYNDROME 2; DURS2 In a large 4-generation Mexican family with autosomal dominant Duane retraction syndrome, Appukuttan et al. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. There are three types of Duane syndrome, with type 1 being the most common: Type 1: Abduction is limited, however adduction is relatively normal. Duane syndrome type 1. J. Ophthal. 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. Management of both varies widely. Duane-radial ray syndrome (DRRS) is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. 2008; 20 (3): 10-14. Suggested by postmortem studies conducted by M.G. About 78% of all Duane syndrome cases are Type 1. Duane's Retraction Syndrome. However, cases that do not correspond to these classifications have been reported recently. It presents with a variety of clinical features including diplopia, anisometropia, and amblyopia. 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. Das Duane-Syndrom ist eine Bedingung, die die Augenbewegung horizontal einschränkt. It is commonly seen to affect the left eye and occurs more often in females than males. Optional forced duction testing and/or force generation testing 4. Hereditary Ocular Disease. Clinically, Duane syndrome is often subdivided into three types, each with associated symptoms. Typically only one eye is affected, though it is possible for both to be compromised. 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. 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). 1980; 98: 870-874. 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. Barbe, M E, W E Scott, and P J Kutschke. This information comes from a database called the Human Phenotype Ontology General physical examination to assess for presence of other associated syndromes, including hearing evaluation. American Association for Pediatric Ophthalmology and Strabismus, National Human Genome Research Institute's, Online Mendelian Inheritance in Man (OMIM). When one eye is affected, the left eye is affected in seventy two percent of the time. is updated regularly. 1988;25:119-130. Type 3 of Duane syndrome happens fifteen percent of the time. Philadelphia, PA: Lippincott Williams & Wilkins; 1993. Types Of Duane Syndrome And Characteristics SeaGullFoundation. How Duane syndrome presents itself depends on the type the individual has. About 7% of all Duane syndrome cases are Type 2. Duane Retraction Syndrome occurs sporadically or is inherited. Duane Syndrome - types. 1945; XXXVIII: 463-465. Sometimes, it also cannot look towards the nose. Inheritance of Duane's syndrome. 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. About 78% of all Duane syndrome cases are Type 1. Use the HPO ID to access more in-depth information about a symptom. Ophthalmologic examination focusing on primary gaze, head position, extraocular movements, and aberrant movements 3. 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