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Duane syndrome type 1(DURS1)

MedGen UID:
201329
Concept ID:
C0994516
Disease or Syndrome
Synonyms: Duane Retraction Syndrome 1; DURS1
 
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

Clinical features

From HPO
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.
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.

Term Hierarchy

Professional guidelines

PubMed

Maya JF, de Liaño RG, Catalán MR, Rayward O
Strabismus 2013 Mar;21(1):4-7. doi: 10.3109/09273972.2012.762530. PMID: 23477770

Recent clinical studies

Etiology

Farvardin M, Rad AH, Ashrafzadeh A
J AAPOS 2009 Aug;13(4):339-42. doi: 10.1016/j.jaapos.2009.04.014. PMID: 19683185

Diagnosis

de Paula Vernetta C, Cavallé Garrido L, Mateos Fernández ML, Mas Estellés F, Morera Pérez C
Acta Otorrinolaringol Esp 2012 Nov-Dec;63(6):488-90. Epub 2011 Oct 1 doi: 10.1016/j.otorri.2011.06.005. PMID: 21963129
Parsa CF, Grant PE, Dillon WP Jr, du Lac S, Hoyt WF
Am J Ophthalmol 1998 Mar;125(3):399-401. doi: 10.1016/s0002-9394(99)80158-5. PMID: 9512165

Clinical prediction guides

Farvardin M, Rad AH, Ashrafzadeh A
J AAPOS 2009 Aug;13(4):339-42. doi: 10.1016/j.jaapos.2009.04.014. PMID: 19683185

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