duane retraction syndrome

Summary

Summary: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.

Top Publications

  1. Morad Y, Kraft S, Mims J. Unilateral recession and resection in Duane syndrome. J AAPOS. 2001;5:158-63 pubmed
    ..efficacy of lateral rectus resection with medial rectus recession in the affected eye of patients with Duane retraction syndrome (DRS) with esotropia and limited abduction, compared with bilateral medial rectus recessions...
  2. Parentin F, Perissutti P. Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. Clin Dysmorphol. 2003;12:141-2 pubmed
    A 4-year-old Italian child with the association of a solitary median maxillary central incisor, growth hormone deficiency, Duane retraction syndrome and a duplicated thumb phalanx is described.
  3. Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, et al. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 2002;11:2979-87 pubmed
    ..We here present evidence in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype. ..
  4. Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster U, Fuchs S, et al. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat. 2005;26:176-83 pubmed
    ..This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. ..
  5. Gutowski N. Duane's syndrome. Eur J Neurol. 2000;7:145-9 pubmed
    ..The definition clinically and genetically of the various subgroups of Duane's syndrome will provide a valuable insight into brainstem axonal guidance to the extraocular muscles during human development. ..
  6. Arya L, Kumar A, Shetty S, Perumalsamy V, Sundaresan P. Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. Ophthalmic Genet. 2011;32:156-7 pubmed publisher
    b>Duane retraction syndrome (DRS) is a congenital eye movement disorder characterized most typically by partial or complete failure of abduction and narrowing of palpebral fissure with globe retraction on adduction...
  7. Farvardin M, Rad A, Ashrafzadeh A. Results of bilateral medial rectus muscle recession in unilateral esotropic Duane syndrome. J AAPOS. 2009;13:339-42 pubmed publisher
    ..To report the results of bilateral medial rectus muscle recession in improvement of the ocular alignment and motility of patients with unilateral esotropic Duane syndrome...
  8. Barbe M, Scott W, Kutschke P. A simplified approach to the treatment of Duane's syndrome. Br J Ophthalmol. 2004;88:131-8 pubmed
    ..Unilateral or bilateral horizontal rectus muscle recession offers a simple and effective surgical option for eliminating AHP and is our treatment of choice in patients with Duane's syndrome. ..
  9. Connell B, Wilkinson R, Barbour J, Scotter L, Poulsen J, Wirth M, et al. Are Duane syndrome and infantile esotropia allelic?. Ophthalmic Genet. 2004;25:189-98 pubmed
    ..We confirmed the previous association of mosaic trisomy 8 with both Duane syndrome and infantile esotropia. These data suggest that the two conditions may be allelic and may be due to a gene on chromosome 8. ..

More Information

Publications62

  1. Yazdian Z, Rajabi M, Ali Yazdian M, Rajabi M, Akbari M. Vertical rectus muscle transposition for correcting abduction deficiency in Duane's syndrome type 1 and sixth nerve palsy. J Pediatr Ophthalmol Strabismus. 2010;47:96-100 pubmed publisher
    ..No recurrence was detected. The Scott Foster procedure is effective for improving deviation, abduction deficiency, and face turn in patients with Duane's syndrome type 1 and especially in those with sixth nerve palsy. ..
  2. Wabbels B, Lorenz B, Kohlhase J. No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS). Am J Med Genet A. 2004;131:216-8 pubmed
  3. Al Baradie R, Yamada K, St Hilaire C, Chan W, Andrews C, McIntosh N, et al. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet. 2002;71:1195-9 pubmed
    ..SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development. ..
  4. Appukuttan B, Gillanders E, Juo S, Freas Lutz D, Ott S, Sood R, et al. Localization of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet. 1999;65:1639-46 pubmed
    b>Duane retraction syndrome (DRS) is a congenital eye-movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, restricted adduction, and ..
  5. Kohlhase J, Holmes L. Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide. Birth Defects Res A Clin Mol Teratol. 2004;70:550-1 pubmed
  6. Anvari F, Hatef E, Mohammadi S, Eskandari A. Duane's retraction syndrome, a case series from Iran. Int Ophthalmol. 2008;28:275-80 pubmed
    ..The incidences of bilateral involvement and type III syndrome were lower. The proportion of cases with head turn was higher and surgery was performed more frequently. ..
  7. Puerto Hernandez B, Lopez Caballero C, Rodriguez Sanchez J, GONZALEZ MANRIQUE M, Contreras I. [Surgical treatment of Duane's syndrome type I by recession of the medial rectus of the affected eye and faden operation of the contralateral medial rectus]. Arch Soc Esp Oftalmol. 2008;83:113-6 pubmed
    ..The purpose of our study is to report the results of patients undergoing recession of the medial rectus (MR) muscle of the affected eye and placement of contralateral MR faden posterior fixation sutures...
  8. Murillo Correa C, Kon Jara V, Engle E, Zenteno J. Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. J AAPOS. 2009;13:245-8 pubmed publisher
  9. Greenberg M, Pollard Z. Poor results after recession of both medial rectus muscles in unilateral small-angle Duane's syndrome, type I. J AAPOS. 2003;7:142-5 pubmed
    ..An alternate theory of normal-eye Duane's surgery is proposed. ..
  10. Khan A, Oystreck D, Wilken K, Akbar F. Duane retraction syndrome on the Arabian Peninsula. Strabismus. 2007;15:205-8 pubmed
    To describe the clinical features of patients from the Arabian Peninsula with Duane retraction syndrome (DRS)...
  11. Borozdin W, Wright M, Hennekam R, Hannibal M, Crow Y, Neumann T, et al. Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J Med Genet. 2004;41:e102 pubmed
  12. Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan W, et al. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008;321:839-43 pubmed publisher
    ..We conclude that alpha2-chimaerin has a critical developmental function in ocular motor axon pathfinding. ..
  13. Khan A. Inverse globe retraction syndrome complicating recurrent pterygium. Br J Ophthalmol. 2005;89:640-1 pubmed
  14. Khan A. Bilateral inverse globe retraction (Duane's) syndrome. Indian J Ophthalmol. 2007;55:388-9 pubmed
    ..A case of true inverse Duane's retraction syndrome, bilateral inverse globe retraction syndrome apparently due to abnormal innervation, is the subject of this clinical report...
  15. Murthy R. Inverse Duane's retraction syndrome following myocysticercosis. Indian J Ophthalmol. 2008;56:89-90 pubmed
  16. Jethani J, Parija S, Shetty S, Vijayalakshmi P. Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. Indian J Ophthalmol. 2006;54:283-4 pubmed
  17. Rickard S, Parker M, Van t Hoff W, Barnicoat A, Russell Eggitt I, Winter R, et al. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet. 2001;108:398-403 pubmed
  18. Guirgis M, Thornton S, Tychsen L, Lueder G. Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. J AAPOS. 2002;6:400-1 pubmed
  19. Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze A, et al. Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. Eur J Hum Genet. 2012;20:580-3 pubmed publisher
    b>Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity...
  20. Pizzuti A, Calabrese G, Bozzali M, Telvi L, Morizio E, Guida V, et al. A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. Invest Ophthalmol Vis Sci. 2002;43:3609-12 pubmed
    ..the gene disrupted by a de novo reciprocal balanced translocation t(6;8)(q26;q13) in a patient with Duane retraction syndrome (DURS). The break point in chromosome arm 8q is positioned within the DURS1 critical region...
  21. Alexandrakis G, Saunders R. Duane retraction syndrome. Ophthalmol Clin North Am. 2001;14:407-17 pubmed
    b>Duane retraction syndrome (DRS) consists of deficient horizontal eye movements, eyelid retraction, palpebral fissure narrowing, and abnormal vertical eye movements...
  22. Barry J, Reddy M. The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). Ophthalmic Genet. 2008;29:177-80 pubmed publisher
    ..Iris and chorioretinal colobomata were described in one individual whose daughter had Duane syndrome...
  23. Becker K, Beales P, Calver D, Matthijs G, Mohammed S. Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families. J Med Genet. 2002;39:68-71 pubmed
  24. Volk A, Fricke J, Strobl J, Kolling G, Kubisch C, Neugebauer A. Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. Graefes Arch Clin Exp Ophthalmol. 2010;248:1351-7 pubmed publisher
  25. Kohlhase J, Heinrich M, Liebers M, Fröhlich Archangelo L, Reardon W, Kispert A. Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome. Cytogenet Genome Res. 2002;98:274-7 pubmed
    ..Prominent expression in the developing midbrain, branchial arches and the limbs suggests an important function of SALL4 during development of these structures as expected from the observation in Okihiro syndrome patients. ..
  26. Chan W, Miyake N, Zhu Tam L, Andrews C, Engle E. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol. 2011;129:649-52 pubmed publisher
    To determine the genetic cause of Duane retraction syndrome (DRS) in 2 families segregating DRS as a dominant trait. Members of 2 unrelated pedigrees were enrolled in a genetic study. Linkage analysis was performed on the CHN1 locus...
  27. Fontenele Neto J, Kalinina E, Feng Y, Fricker L. Identification and distribution of mouse carboxypeptidase A-6. Brain Res Mol Brain Res. 2005;137:132-42 pubmed
    ..Taken together, the distribution of CPA6 suggests a specific role in a limited number of tissues, and it is possible that this role involves an aspect of cell migration. ..
  28. Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton Smith J, et al. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet. 2004;41:e113 pubmed
  29. Calabrese G, Stuppia L, Morizio E, Guanciali Franchi P, Pompetti F, Mingarelli R, et al. Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. Eur J Hum Genet. 1998;6:187-93 pubmed
    ..In addition YAC analysis in our patient showed that 8q rearrangement was rather complex since 8q deletion and insertion occurred in two distinct segments separated by a region which maintained its location on 8q. ..
  30. Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed S, et al. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet. 2003;40:473-8 pubmed
    ..Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of SALL4 mutations. ..
  31. Kraft S. Lateral rectus resection strabismus surgery in unilateral duane syndrome with esotropia and limited abduction. Binocul Vis Strabismus Q. 2010;25:149-57 pubmed
    Resection of the lateral rectus in Duane retraction syndrome (DRS) with esotropia (ET) and limited abduction can be a useful component of surgical planning in specific circumstances, when combined with medial rectus (MR) recession...
  32. Kim J, Hwang J. Abducens nerve is present in patients with type 2 Duane's retraction syndrome. Ophthalmology. 2012;119:403-6 pubmed publisher
    ..Magnetic resonance imaging revealed the presence of the abducens nerve in all the affected eyes (n = 13) of 12 patients with type 2 DRS. The abducens nerve is present on the affected side in type 2 Duane's retraction syndrome. ..
  33. Kim J, Hwang J. Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders. Korean J Ophthalmol. 2017;31:183-193 pubmed publisher
    ..dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and ..
  34. Heo H, Park S. Rectus muscle posterior tenon fixation as an inactivation procedure. Am J Ophthalmol. 2008;146:310-317 pubmed publisher
  35. Snir M, Friling R, Kalish Stiebel H, Sherf I, Weinberger D, Axer Siegel R. Full vertical rectus muscle transposition combined with medial posterior fixation sutures for patients with adduction deficiency. Ophthalmology. 2005;112:939-43 pubmed
    ..The augmented full vertical rectus muscle procedure is a beneficial surgical approach for patients with ADD and Duane's retraction syndrome type 2, reducing the need for multiple extraocular muscle surgery. ..
  36. Toledano S, Parbhoo A, Von Arx D. Duane retraction syndrome mimicking orbital fracture. Br J Oral Maxillofac Surg. 2011;49:e76-8 pubmed publisher
    ..He was later discovered to have Duane retraction syndrome, a rare congenital disorder of eye movement that has some of the clinical characteristics of fractures ..
  37. Akdal G, Kutluk K, Men S, Yaka E. Benedikt and "plus-minus lid" syndromes arising from posterior cerebral artery branch occlusion. J Neurol Sci. 2005;228:105-7 pubmed
    ..Rare clinical presentations such as Benedikt and plus-minus syndromes can be seen together and be due to stenosis of the posterior cerebral artery with specific regional infarctions. ..
  38. Khan A, Al Mesfer S. Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence. J AAPOS. 2015;19:463-5 pubmed publisher
    ..Further study is needed to understand how frequently recessive COL25A1 mutations underlie these specific ocular phenotypes. ..
  39. Clark C, Austen O, Poparic I, Guthrie S. ?2-Chimaerin regulates a key axon guidance transition during development of the oculomotor projection. J Neurosci. 2013;33:16540-51 pubmed publisher
    ..In humans, defective development of this system leads to eye movement disorders, such as Duane Retraction Syndrome, which can result from mutations in the ?2-chimaerin signaling molecule...
  40. Theodorou N, Burke J. Surgical and functional outcomes in bilateral exotropic Duane's retraction syndrome. Br J Ophthalmol. 2013;97:1134-7 pubmed publisher
    ..This case series on exotropic bilateral DRS provides further evidence into successful postoperative surgical and functional outcomes. ..
  41. D Amelio S, Lassen N, Vasiliou V, Bateman J. Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. Ophthalmic Genet. 2009;30:7-12 pubmed publisher
  42. Smith S, Traboulsi E. Duane syndrome in the setting of chromosomal duplications. Am J Ophthalmol. 2010;150:932-8 pubmed publisher
    ..The regions of chromosomes 2, 10, and 22 that we report may harbor genes involved in the pathogenesis of Duane syndrome. ..
  43. Velez F, Foster R, Rosenbaum A. Vertical rectus muscle augmented transposition in Duane syndrome. J AAPOS. 2001;5:105-13 pubmed
  44. Wabbels B, Höckele N, Roggenkämper P. ["Sometimes my left eye disappears under the eyelid"]. Ophthalmologe. 2006;103:345-6 pubmed
  45. Merino P, Gómez de Liaño P, Ah Kim Y. Complications of augmented superior rectus transposition in Duane syndrome. Arch Soc Esp Oftalmol. 2017;92:175-177 pubmed publisher
    ..It could be an alternative for the vertical rectus transposition when MR recession has to be operated on in the same procedure, or in the immediate post-operative period, in order to decrease the risk of anterior segment ischaemia. ..
  46. Man F, Wang Z, Wang J, Zhang F, Jiao Y. Unilateral vertical retraction syndrome with orbital band. J AAPOS. 2009;13:419-21 pubmed publisher
    ..Here the authors present a girl with unilateral retraction in upgaze and report the magnetic resonance imaging findings associated with retraction and narrowing of the palpebral fissure. ..
  47. Remulla H, Bilyk J, Rubin P. Pseudo-entrapment of extraocular muscles in patients with orbital fractures. J Craniomaxillofac Trauma. 1995;1:16-29 pubmed
    ..The purpose of this article is to describe other causes of abnormal ocular motility that are associated with orbital trauma but which are not caused by soft tissue entrapment. ..
  48. She H, Man F, Wang Z, Wang J, Jiao Y, Zhao K. Vertical deviation and A pattern of type III Duane retraction syndrome. Chin Med J (Engl). 2012;125:2929-32 pubmed
    Researches in ocular electromyography (EMG) and Magnetic resonance imaging (MRI) of patients with Duane retraction syndrome (DRS) suggest that there may be additional abnormalities such as paradoxical innervation between horizontal ..
  49. Becker R, Horn D, Knoll U, Stumm M, Wegner R, Peters H, et al. First-trimester prenatal diagnosis of Okihiro syndrome. Fetal Diagn Ther. 2010;27:222-6 pubmed publisher
    ..The diagnosis was confirmed by autoptic, radiologic and molecular genetic analysis. To our knowledge, this is the first case of prenatal diagnosis of OS. ..
  50. Kalevar A, Ong Tone S, Flanders M. Duane syndrome: Clinical features and surgical management. Can J Ophthalmol. 2015;50:310-3 pubmed publisher
    ..The type of upshoot/downshoot correlated strongly with the A, V, or X pattern. Postoperative improvements of abnormal head posture and PP alignment were achieved in the surgical subset of patients. ..
  51. Piccirelli M, Luechinger R, Sturm V, Boesiger P, Landau K, Bergamin O. Local deformation of extraocular muscles during eye movement. Invest Ophthalmol Vis Sci. 2009;50:5189-96 pubmed publisher
    ..Motion-encoded MRI is a useful technique for advancing the understanding of the physiology and pathophysiology of EOMs in humans during eye movement. ..
  52. Zhang F. [A clinical analysis of 25 cases with Duane's retraction syndrome combined with congenital crocodile tears]. Zhonghua Yan Ke Za Zhi. 2002;38:217-9 pubmed
    ..Clinically, cases with Duane's syndrome combined with crocodile tears are relatively few. That sufficiently pay attention to and master its clinical characteristics is the basis for its correct diagnosis. ..
  53. Kim J, Hwang J. Presence of the abducens nerve according to the type of Duane's retraction syndrome. Ophthalmology. 2005;112:109-13 pubmed
    ..In terms of the presence or absence of the abducens nerve, type 1 and type 2 DRS were homogenous, and type 3 DRS was heterogenous. ..