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Duane retraction syndrome 3 with or without deafness(DURS3)

MedGen UID:
934719
Concept ID:
C4310752
Disease or Syndrome
Synonyms: Duane retraction syndrome 3; Duane syndrome type 3; DURS3
 
Gene (location): MAFB (20q12)
 
Monarch Initiative: MONDO:0014880
OMIM®: 617041

Disease characteristics

Excerpted from the GeneReview: Duane Syndrome
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 lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome. [from GeneReviews]
Authors:
Brenda J Barry  |  Mary C Whitman  |  David G Hunter, et. al.   view full author information

Additional description

From OMIM
Duane retraction syndrome is the most common congenital disorder of cranial dysinnervation, with a prevalence of 1 in 1,000 individuals. Affected individuals have limited unilateral or bilateral horizontal eye movement, accompanied by globe retraction and palpebral fissure narrowing on attempted adduction (movement of the eye inward, toward the nose). DURS can be classified into 3 types: type 1, the most common, involves limited abduction (movement of the eye outward toward the ear); type 2, the least common, involves limited adduction; and type 3 involves limitation of both abduction and adduction. MRI and postmortem examination of patients with DURS have shown absence or hypoplasia of the abducens nerve, which normally innervates the lateral rectus (LR) extraocular muscle to abduct the eye, as well as aberrant LR muscle innervation by axons of the oculomotor nerve, which normally innervates the medial, inferior, and superior rectus and inferior oblique extraocular muscles (summary by Park et al., 2016). For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (126800).  http://www.omim.org/entry/617041

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Palpebral fissure narrowing on adduction
MedGen UID:
375896
Concept ID:
C1846465
Finding
Duane retraction syndrome
MedGen UID:
4413
Concept ID:
C0013261
Disease or Syndrome
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 lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.
Impaired ocular abduction
MedGen UID:
375894
Concept ID:
C1846462
Finding
An impaired ability of the eye to move in the outward direction (towards the side of the head).
Impaired ocular adduction
MedGen UID:
337588
Concept ID:
C1846463
Finding
Reduced ability to move the eye in the direction of the nose.

Professional guidelines

PubMed

Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML
J Clin Immunol 2023 Feb;43(2):247-270. Epub 2023 Jan 17 doi: 10.1007/s10875-022-01418-y. PMID: 36648576Free PMC Article
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article

Recent clinical studies

Etiology

Gómez-Merino N, Fajardo I, Ferrer A, Arfé B
J Deaf Stud Deaf Educ 2020 May 30;25(3):351-364. doi: 10.1093/deafed/enaa005. PMID: 32173744
Listman JD, Kurz KB
J Deaf Stud Deaf Educ 2020 Apr 5;25(2):239-249. doi: 10.1093/deafed/enz045. PMID: 32091592
Domagała-Zyśk E
Am Ann Deaf 2019;164(3):381-394. doi: 10.1353/aad.2019.0020. PMID: 31422974
Ramsden RT
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Belzner KA, Seal BC
Am Ann Deaf 2009 Summer;154(3):311-33. doi: 10.1353/aad.0.0102. PMID: 19957486

Diagnosis

Butler BE, Meredith MA, Lomber SG
Hear Res 2017 Jan;343:1-3. Epub 2016 Oct 19 doi: 10.1016/j.heares.2016.10.014. PMID: 27771426
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Shearer AE, Hildebrand MS, Sloan CM, Smith RJ
Hear Res 2011 Dec;282(1-2):1-9. Epub 2011 Oct 8 doi: 10.1016/j.heares.2011.10.001. PMID: 22016077Free PMC Article
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Lancet 1986 Jun 28;1(8496):1477-8. PMID: 2873285

Therapy

Smith C, Zafeer MF, Tekin M
Nat Med 2024 Jul;30(7):1828-1829. doi: 10.1038/s41591-024-03004-8. PMID: 38839898
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
Rabbolini D, Liang HPH, Morel-Kopp MC, Connor D, Whittaker S, Dunkley S, Donikian D, Kondo M, Chen W, Stevenson WS, Campbell H, Joseph J, Ward C, Brighton T, Chen VM; Sydney Platelet Group
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J Cardiovasc Pharmacol Ther 2011 Sep-Dec;16(3-4):267-72. doi: 10.1177/1074248411408313. PMID: 21821527Free PMC Article
Cortopassi G, Hutchin T
Hear Res 1994 Jul;78(1):27-30. doi: 10.1016/0378-5955(94)90040-x. PMID: 7961174

Prognosis

Skarzynski H, Lorens A, Dziendziel B, Rajchel JJ, Matusiak M, Skarzynski PH
ORL J Otorhinolaryngol Relat Spec 2019;81(2-3):63-72. Epub 2019 Mar 28 doi: 10.1159/000497060. PMID: 30921808
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Clinical prediction guides

Mayer C, Trezek BJ
Am Ann Deaf 2023;167(5):625-643. doi: 10.1353/aad.2023.0004. PMID: 38661776
Spitzer ER, Waltzman SB
Expert Rev Med Devices 2023 Jul-Dec;20(12):1131-1141. Epub 2023 Nov 24 doi: 10.1080/17434440.2023.2283619. PMID: 37969071
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Listman JD, Kurz KB
J Deaf Stud Deaf Educ 2020 Apr 5;25(2):239-249. doi: 10.1093/deafed/enz045. PMID: 32091592
Gremp MA, Deocampo JA, Walk AM, Conway CM
J Child Lang 2019 Jul;46(4):785-799. Epub 2019 Feb 26 doi: 10.1017/S0305000918000569. PMID: 30803455Free PMC Article

Recent systematic reviews

Malesci R, Lombardi M, Abenante V, Fratestefano F, Del Vecchio V, Fetoni AR, Troisi J
Int J Mol Sci 2023 Oct 14;24(20) doi: 10.3390/ijms242015188. PMID: 37894867Free PMC Article
Choi GW, Lee KE, Chang SJ, Kim HJ
Patient Educ Couns 2023 Sep;114:107830. Epub 2023 May 29 doi: 10.1016/j.pec.2023.107830. PMID: 37301012
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
Van Esch B, van der Zaag-Loonen H, Bruintjes T, van Benthem PP
Audiol Neurootol 2022;27(1):1-33. Epub 2021 Jul 7 doi: 10.1159/000515821. PMID: 34233329
Jufas NE, Wood R
J Laryngol Otol 2015 Jul;129 Suppl 3:S14-22. Epub 2015 Apr 10 doi: 10.1017/S0022215115000808. PMID: 25858126

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