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. 2010; 150: 932-8. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. CFEOM type 1 is inherited autosomal dominantly is most commonly due to mutations in the KIF21A gene on chromosome 12. 2002; 11: 2979-2987. Proc Natl Acad Sci USA 2012;109:14669-74. Duane syndrome has been subdivided clinically into three types: type 1, type 2, and type 3. Various treatments can be useful, ranging from prisms for mild cases to muscle surgery for a severe head turn or vertical deviations. Baroncini A, Bertuzzo S, Quarantini R, et al. Arch Ophthalmol.. 2011; 129 :649-52. No evidence of SALL4-mutations in isolated sporadic duane retraction “syndrome” (DURS). When the presence of DS is suspected, a thorough ocular (eye) examination is required, with special attention to the presence of other ocular or systemic malformations. The goal of surgery is the elimination or improvement of an unacceptable head turn, the elimination or reduction of significant misalignment of the eyes, the reduction of severe retraction, and the improvement of upshoots and downshoots. Genet. 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. Ferrario JE, Baskaran P, Clark C, Hendry A, Lerner O, Hintze M, Allen J, Chilton JK, Guthrie S. Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. Presence of the abducens nerve according to the type of Duane’s retraction syndrome. Miyake N, et al. The essential features are globe retraction upon adduction with narrowing of the lid fissure and some limitation of abduction. Arch Dis Child. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. Am J Ophthalmol. Evaluation should include the following: 1. Am J Hum Genet. 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. 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. Duane syndrome type 2: The ability to move the affected eye(s) inward toward the nose (adduction) is limited, whereas the ability to move the eye outward (abduction) is normal or only slightly limited. Duane Retraction Syndrome. The presence of more than 1 Duane syndrome type within a single pedigree was described by Chung et al. Affected eyes have variable ability (from none to normal) to move horizontally and a complete inability to move above the horizontal midline. Neuropathological evidence comes from autopsies of individuals with DS. Neurophysiological evidence for neuronal involvement in DS comes from electromyographic (EMG) studies which show that the medial and lateral recti muscles are electrically active in individuals with DS. Family history 2. 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 (126800) in which an esotropia with a head turn to the involved side is more common. 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). Familial isolated Duane syndrome 2 individuals usually appear in an autosomal dominant pattern of inheritance caused by a mutation in CHN1 (2q31-q32.1). At one point the syndrome was considered to be a myopathic disorder based on histologic changes in the lateral rectus but current thought based on MRI and neurohistologic studies favors a neuropathic etiology. The majority of Duane syndrome cases are sporadic in origin, with only approximately 10% of patients showing a familial pattern (running in families). Standard management of Duane syndrome (DS) may involve surgery. 2016;98:1220-7. The choice of procedure must be individualized. Share. PubMed PMID: 17197533. PubMed PMID: 15629829. Duane syndrome type 2 refers to marked or complete limitation of adduction with minimal or no limitation of abduction. Are there different types of Duane Syndrome? 2010; 152A: 2342-5. In Duane syndrome type 2, adduction is limited, and abduction is normal or only slightly … 1998;125:399-401. The University of Arizona is an EEO/AA - M/W/D/V Employer. Hum Mol Genet.1994;3:1859-66. 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. Strabismus is incomitant when the misalignment or the angle of deviation varies with gaze direction. NORD strives to open new assistance programs as funding allows. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The classic CFEOM presentation includes bilateral ptosis (droopy eyelids) with the eyes in a downward position (CFEOM type 1). DS is a congenital cranial dysinnervation disorder (CCDD). Espinasse-Berrod Bilateral Duane syndrome type II • Restrictive syndrome. In some patients, when the eye attempts to look inward, it moves upward (upshoot) or downward (downshoot). When the affected eye(s) moves inward toward the nose, the eyeball retracts (pulls in) and the eye opening (palpebral fissure) narrows. 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. The rarer CFEOM type 2 is inherited autosomal recessively and is due to mutations in the PHOX2A gene on chromosome 11. Duane's Syndrome Type 2: Aberrant Regeneration of the Third and Sixth Nerves. The affected eye may be out of alignment with the unaffected eye and may show a downshoot and/or a widening of the eye opening when looking inward and up. Bilateral Duane syndrome type II (Service d’ophtalmologie, CHU Necker, Paris) Examen Patiente 1 Une jeune femme, âgée de 16 ans, présente depuis la naissance une exotropie. J Pediatr Ophthalmol Strabismus. Neuromuscular Disorders 2003; 13: 573-578. Frank strabismus in primary position is evident in as many as 76% of individuals and a compensatory head turn is often adopted. Inability to move eyeball outward towards ears. Most cases occur sporadically but others are familial and about 30% of affected individuals have other congenital anomalies. Human CHN1 mutations hyperactivate a2-chimaerin and cause Duane’s retraction syndrome. 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. Duane syndrome is usually an isolated finding (approximately 70%), but may be associated with other malformations. 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. Patients should be followed carefully in the first decade of life for the onset of amblyopia and appropriate treatment instituted. Duane syndrome type 2 Modes of inheritance Autosomal dominant inheritance (HPO, OMIM) Summary Excerpted from the GeneReview: Duane Syndrome. Simple horizont… Ferrario JE, Baskaran P, Clark C, et al. However, hypoplastic muscles, including the superior oblique, superior rectus, and levator, have also been visualized on MRI. Treatment The standard management of Duane syndrome may involve observation, treatment of amblyopia (such as patching of the better seeing eye) or possibly surgery. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Features of synergistic divergence were observed in 19 patients (5%) with Duane syndrome, 13 of whom were initially diagnosed with type 2 or Duane … Evans JC, Frayling TM, Ellard S and Gutowski NJ. 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. Sporadic cases are mostly unilateral while familial ones are more likely to be bilateral. 6. The protein products appear to be involved in early neurological development and are critical to the formation of the cranial nerves that innervate the extraocular muscles. Hum. 33.35).573,575,589 Thus this disorder is another type of congenital restrictive ophthalmoparesis, akin to CFEOM. In type II, one or both eyes has trouble looking toward the nose. (For more information on these disorders, choose “Congenital Fibrosis of the Extraocular Muscles” as your search term in the Rare Disease Database). Approximately 80-90% of cases are unilateral. Shopping. Info. Simple horizontal muscle recession procedures, vertical rectus muscle transposition procedures, or combinations of the two may be successful in improving or eliminating head turns and misalignment of the eyes. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. In addition, DS has been reported with chromosomal duplications. In some families, an affected individuals’ presentation can range from very mild to the classic presentation described above. Demer JL, Ortube MC, Engle EC, et al. Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC. Different clinical types may be present within the same family, suggesting that the same genetic defect may produce a range of clinical presentations. You have limited ability to move your eye toward your nose. Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Mol Cytogenet. Features of Duane syndrome are also part of the Duane-Radial Ray Syndrome (607323). The risk is the same for males and females. Strabismus may be an isolated finding or found in association with other birth defects. Parsa CF, et al., Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging. General physical examination to assess for presence of other associated syndromes, including hearing evaluation. In 1974, with the support of electromyography (EMG) and following the suggestions of Lyle and Malbran, Huber classified Duane syndrome into the 3 types: Duane 1, Duane 2, and Duane 3. There are two other types of Duane syndrome as well. © 2019 The Arizona Board of Regents on behalf of The University of Arizona. 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. Acknowledgements and Rights | Admin | Login. 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%]). You are able to move your eye toward your ear normally, or with only a slight restriction. 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). The female to male ratio of individuals with DS is approximately 60:40, showing a slightly higher preponderance of female patients. Surgery does not eliminate the fundamental abnormality of innervation and no surgical technique has been completely successful in eliminating the abnormal eye movements. Of the unilateral cases, the left eye is more often affected (72%). Duane syndrome has been seen in diverse ethnic groups. 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). In some people, the lateral rectus muscle overcomes the medial rectus muscle in the tug of war, and the eye can move outward but not inward (Duane syndrome Type II). Expansion of the CHN1 strabismus phenotype. 2007 Jan;48(1):194-202. Three heritable types with autosomal dominant familial patterns have also been defined. Data to support abnormal development of cranial nerve VI (abducens nerve) in DS come from neuropathological, neuroradiological and neurophysiological evidence. In place of the abducens nerve is a nerve branch from the oculomotor nerve (cranial nerve III) which normally supplies other ocular muscles. Genetic linkage studies of two large DS families (with affected members having type 1 and/or type 3 DS inherited autosomal dominantly) without associated abnormalities established the location of a DS gene on chromosome 2. In Type II Duane syndrome: there is limited or no ability to move the eye inward; the eye has little to no difficulty moving outward; In Type III Duane syndrome: there limited or no ability to move the eye either inward or outward; Because the affected sixth cranial nerve cannot be repaired or replaced, there is no cure for Duane syndrome. 2019;105:854-868. Involvement of both eyes (bilateral) is less common than involvement of one eye only (unilateral). (2007) demonstrated linkage of the disorder within the same 8.8-cM interval, with maximum lod scores of 2.1 and 2.3 at D2S2314, respectively. Am J Hum Genet..1999;65:1639-46. Ophthalmology. Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Clin Genet. In familial DS cases both eyes are more likely to be affected. University Privacy Statement Symptoms of Duane syndrome type II (Duane retraction syndrome 2) Some of the symptoms of Duane syndrome type II incude: Widening of eye opening when looking towards nose. Genetic, and possibly environmental factors, are known to play a role. 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). (2000), Evans et al. Gutowski NJ, Chilton JK. Individuals compensate by tilting their heads backward with the chin elevated in order to see. Familial isolated Duane syndrome 2 individuals usually appear in an autosomal dominant pattern of inheritance caused by a mutation in CHN1 (2q31-q32.1). Are the cause, hyperactivating the a2-chimaerin protein have limited ability to move your eye toward your ear,. 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