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. Data to support abnormal development of cranial nerve VI (abducens nerve) in DS come from neuropathological, neuroradiological and neurophysiological evidence. 2007;48:5505-11. 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. Neuromuscular Disorders 2003; 13: 573-578. 2010; 77: 499-502. 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). This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. Shopping. A variety of skeletal and uroglogic anomalies have been found in association with the ocular findings of Duane syndrome but no consistent pattern has been documented. Inheritance is autosomal dominant. 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). The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. It is also seen as part of other syndromes such as Goldenhar (164210), and Wildervanck (314600). Sporadic cases are mostly unilateral while familial ones are more likely to be bilateral. Appukuttan B., et al., Localization of a gene for Duane retraction syndrome to chromosome 2q31. When looking straight, the affected eye may be downward. Involvement of both eyes is less common than one eye only. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Duane syndrome type 2 refers to marked or complete limitation of adduction with minimal or no limitation of abduction. 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.) Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Type 2. Watch later. Stark Z et al. Am J Hum Genet. Concomitant strabismus occurs when the misalignment or the angle of deviation between the two eyes remains constant and independent of the direction of gaze. Kato Z, Yamagishi A, Kondo N. Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome. 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 content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. 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. Patients should be followed carefully in the first decade of life for the onset of amblyopia and appropriate treatment instituted. Hum. The group includes Duane syndrome, congenital fibrosis of the extraocular muscles (CFEOM), congenital ptosis, Marcus Gunn jaw winking, Möbius syndrome, crocodile tears, horizontal gaze palsy and congenital facial palsy, but this is not an exhaustive list. It presents as an eye movement disorder in which an individual’s affected eye is unable to look inward toward the nose and up. Invest Ophthalmol Vis Sci. Cullen P, et al., Association of a familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22. 2000: 106: 636-638. DS can also be found as part of a complex autosomal recessive disorder that can include deafness, facial weakness, vascular malformations and learning difficulties due to two mutations in the HOXA1 gene. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. About 78% of all Duane syndrome cases are Type 1. Duane syndrome type 3 refers to marked or complete limitation of both abduction and adduction. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. NORD is a registered 501(c)(3) charity organization. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. The most common clinical presentation is type 1 DS (78% of cases) followed by type 3 (15%) and type 2 (7%). Mol Cytogenet. 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. 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. When looking outward toward the ear (abduction), the reverse occurs. 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). Individuals compensate by tilting their heads backward with the chin elevated in order to see. Three heritable types with autosomal dominant familial patterns have also been defined. Okihiro syndrome is caused by SALL4 mutations. Duane syndrome (DS) is a rare eye disorder some people are born with. In 2 additional families with Duane retraction syndrome, one Hispanic and the other Caucasian, Engle et al. Am J Hum Genet. 2018;94:396-407. 2000 Mar;107(3):500-3. The majority of Duane syndrome cases are sporadic in origin, with only approximately 10% of patients showing a familial pattern (running in families). Most familial cases are not associated with other anomalies. The risk is the same for males and females. 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%]). 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 A 2004;131:216-8. 1993;30:178-83. Mutations in CHN1 are usually absent in nonfamilial cases of 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. Mutations in the CHN1 gene have also been found in other families. These autopsies show abnormal innervation of the lateral rectus muscle (the muscle that moves the eye outward toward the ear) and an absence / failure to develop normally of the abducens nerve (cranial nerve VI) which normally supplies the lateral rectus muscle. Chan WM et al. Surgery does not eliminate the fundamental abnormality of innervation and no surgical technique has been completely successful in eliminating the abnormal eye movements. At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction). However, hypoplastic muscles, including the superior oblique, superior rectus, and levator, have also been visualized on MRI. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. If we don't have a program for you now, please continue to check back with us. DS is a congenital cranial dysinnervation disorder (CCDD). Females are affected more frequently than males. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane’s retraction syndrome linked to DURS2 locus. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. De novo pathogenic variants in N-Cadherin cause a syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular and genital defects. The combination of focal segmental glomerulosclerosis (FSGS), DS and deafness has been shown to be due to a rare MAFB mutation. Science 2008; 321: 839-843. CFEOM type 1 is inherited autosomal dominantly is most commonly due to mutations in the KIF21A gene on chromosome 12. NORD strives to open new assistance programs as funding allows. Al-Baradie R. et al. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. Proc Natl Acad Sci USA 2012;109:14669-74. PubMed PMID: 10711888. Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. PubMed PMID: 20034095. In place of the abducens nerve is a nerve branch from the oculomotor nerve (cranial nerve III) which normally supplies other ocular muscles. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Borozdin W, Boehm D, Leipoldt M, et al. Duane syndrome (DS) is an eye movement disorder present at birth (congenital) characterized by horizontal eye movement limitation: a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction), or in both directions. Parsa CF, et al., Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging. The choice of procedure must be individualized. The abducens motor neurons and the sixth nerve may be absent or dysplastic. 2013;6:49. Optional forced duction testing and/or force generation testing 4. In subgroup B, the affected eye is turned outward toward the ear (exotropia), and in subgroup C, the eyes are in a straight primary position. 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 most patients, DS is diagnosed by the age of 10 years. About 78% of all Duane syndrome cases are Type 1. For other forms of autosomal dominant Duane syndrome, see Duane Retraction Syndrome 1 (126800) and Duane Retraction Syndrome 3 (617041). 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. Photographic documentation for future review 5. Espinasse-Berrod Bilateral Duane syndrome type II • Restrictive syndrome. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright. 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. Tischfield MA et al. Vincent C, et al., A proposed new contiguous gene syndrome on 8q consists of bronchio-oto-renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. Proc Natl Acad Sci U S A. Loss of MAFB function in humans and mice causes Duane Syndrome, aberrant extraocular muscle innervation, and inner-ear defects. Hum Mol Genet. About 7% of all Duane syndrome cases are Type 2. O. Tazi, M. Sadaoui, M.A. Evaluation of family members at risk within the first year of life 7. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. Smith SB, Traboulsi EI. Genet. Genetic, and possibly environmental factors, are known to play a role. Info. 2007 Jan;48(1):194-202. Strabismus is a large category of eye movement disorders in which the eyes are not properly yoked together, and one or both eyes are misaligned and cannot be voluntarily controlled. Standard management of Duane syndrome (DS) may involve surgery. Evans JC, Frayling TM, Ellard S and Gutowski NJ. 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). Baroncini A, Bertuzzo S, Quarantini R, et al. Type 3 of Duane syndrome happens fifteen percent of the time. Ophthalmology. [Epub ahead of print] PubMed PMID: 22912401. 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. Acknowledgements and Rights | Admin | Login. Sato Y, et al. 2010; 152A: 2342-5. 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). Truncating mutations and SALL4 gene deletions have been identified in DRRS families and there is haploinsufficiency (the level of the protein is not sufficient for normal functioning). 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