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Duane syndrome type 1(DURS1)

MedGen UID:
201329
Concept ID:
C0994516
Disease or Syndrome
Synonyms: Duane Retraction Syndrome 1; DURS1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0024265
OMIM®: 126800

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 descriptions

From MedlinePlus Genetics
About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands.\n\nResearchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward.\n\nIsolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye.  https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome
From MedlinePlus Genetics
Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward.\n\nAbout 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands.\n\nIsolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye.  https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome

Clinical features

From HPO
Palpebral fissure narrowing on adduction
MedGen UID:
375896
Concept ID:
C1846465
Finding
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Impaired convergence
MedGen UID:
78768
Concept ID:
C0271379
Finding
Reduced ability to turn the eyes inward in order to focus on a nearby object.
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.
Duane anomaly
MedGen UID:
375895
Concept ID:
C1846464
Finding

Term Hierarchy

Recent clinical studies

Etiology

Çelik S, İnal A, Aygıt ED, Ocak OB, Gökyiğit B
Int Ophthalmol 2021 Mar;41(3):797-803. Epub 2020 Nov 13 doi: 10.1007/s10792-020-01632-w. PMID: 33185820
Kekunnaya R, Marella BL, Peguda HK, Sachdeva V
Indian J Ophthalmol 2020 Oct;68(10):2196-2198. doi: 10.4103/ijo.IJO_123_20. PMID: 32971639Free PMC Article
Abdallah MEI, Eltoukhi EM, Awadein AR, Zedan RH
J Pediatr Ophthalmol Strabismus 2020 Sep 1;57(5):309-318. doi: 10.3928/01913913-20200506-02. PMID: 32956481
Lee YJ, Lee HJ, Kim SJ
Korean J Ophthalmol 2020 Apr;34(2):158-165. doi: 10.3341/kjo.2019.0100. PMID: 32233150Free PMC Article
Bhate M, Sachdeva V, Kekunnaya R
J Pediatr Ophthalmol Strabismus 2017 Mar 1;54(2):117-122. Epub 2016 Dec 16 doi: 10.3928/01913913-20161013-03. PMID: 27977037

Diagnosis

Çelik S, İnal A, Aygıt ED, Ocak OB, Gökyiğit B
Int Ophthalmol 2021 Mar;41(3):797-803. Epub 2020 Nov 13 doi: 10.1007/s10792-020-01632-w. PMID: 33185820
Kekunnaya R, Marella BL, Peguda HK, Sachdeva V
Indian J Ophthalmol 2020 Oct;68(10):2196-2198. doi: 10.4103/ijo.IJO_123_20. PMID: 32971639Free PMC Article
Lee YJ, Lee HJ, Kim SJ
Korean J Ophthalmol 2020 Apr;34(2):158-165. doi: 10.3341/kjo.2019.0100. PMID: 32233150Free PMC Article
Kim JH, Hwang JM
BMC Ophthalmol 2017 May 19;17(1):75. doi: 10.1186/s12886-017-0475-6. PMID: 28526001Free PMC Article
Kim JH, Hwang JM
J Child Neurol 2014 Nov;29(11):NP151-3. Epub 2014 Jan 21 doi: 10.1177/0883073813513331. PMID: 24453144

Therapy

Abdallah MEI, Eltoukhi EM, Awadein AR, Zedan RH
J Pediatr Ophthalmol Strabismus 2020 Sep 1;57(5):309-318. doi: 10.3928/01913913-20200506-02. PMID: 32956481
Sener EC, Yilmaz PT, Fatihoglu ÖU
J AAPOS 2019 Feb;23(1):25.e1-25.e4. Epub 2019 Jan 14 doi: 10.1016/j.jaapos.2018.10.011. PMID: 30654143
Sener EC, Yilmaz PT, Fatihoglu ÖU
J AAPOS 2019 Feb;23(1):21.e1-21.e7. Epub 2019 Jan 8 doi: 10.1016/j.jaapos.2018.10.010. PMID: 30633960
Kinori M, Miller KE, Cochran M, Patil PA, El Sahn M, Khayali S, Robbins SL, Hertle RW, Granet DB
J AAPOS 2015 Aug;19(4):311-5. Epub 2015 Jul 30 doi: 10.1016/j.jaapos.2015.05.005. PMID: 26235793
Maya JF, de Liaño RG, Catalán MR, Rayward O
Strabismus 2013 Mar;21(1):4-7. doi: 10.3109/09273972.2012.762530. PMID: 23477770

Prognosis

Abdallah MEI, Eltoukhi EM, Awadein AR, Zedan RH
J Pediatr Ophthalmol Strabismus 2020 Sep 1;57(5):309-318. doi: 10.3928/01913913-20200506-02. PMID: 32956481
Lee YJ, Lee HJ, Kim SJ
Korean J Ophthalmol 2020 Apr;34(2):158-165. doi: 10.3341/kjo.2019.0100. PMID: 32233150Free PMC Article
Gunduz A, Ozsoy E, Ulucan PB
Semin Ophthalmol 2019;34(1):52-58. Epub 2018 Dec 5 doi: 10.1080/08820538.2018.1554746. PMID: 30516080
Snir M, Dotan A, Friling R, Ron-Kella Y, Goldenberg-Cohen N, Stiebel-Kalish H
Eye (Lond) 2014 Mar;28(3):279-84. Epub 2013 Dec 6 doi: 10.1038/eye.2013.260. PMID: 24310235Free PMC Article
Maya JF, de Liaño RG, Catalán MR, Rayward O
Strabismus 2013 Mar;21(1):4-7. doi: 10.3109/09273972.2012.762530. PMID: 23477770

Clinical prediction guides

Lee YJ, Lee HJ, Kim SJ
Korean J Ophthalmol 2020 Apr;34(2):158-165. doi: 10.3341/kjo.2019.0100. PMID: 32233150Free PMC Article
Abdel Razek AAK, Helmy EM, Maher H, Kasem MA
J Comput Assist Tomogr 2019 May/Jun;43(3):467-471. doi: 10.1097/RCT.0000000000000859. PMID: 31082953
Snir M, Dotan A, Friling R, Ron-Kella Y, Goldenberg-Cohen N, Stiebel-Kalish H
Eye (Lond) 2014 Mar;28(3):279-84. Epub 2013 Dec 6 doi: 10.1038/eye.2013.260. PMID: 24310235Free PMC Article
Tanaka M, Nishina S, Ogonuki S, Akaike S, Azuma N
Jpn J Ophthalmol 2011 May;55(3):264-267. Epub 2011 May 11 doi: 10.1007/s10384-011-0020-8. PMID: 21559912
Smith SB, Traboulsi EI
Am J Ophthalmol 2010 Dec;150(6):932-8. Epub 2010 Oct 8 doi: 10.1016/j.ajo.2010.06.030. PMID: 20933218

Recent systematic reviews

Gouws C, Mortazavi R, Mellor D, McKune A, Naumovski N
Complement Ther Med 2020 May;50:102384. Epub 2020 Mar 27 doi: 10.1016/j.ctim.2020.102384. PMID: 32444049

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