U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Duane retraction syndrome 2(DURS2)

MedGen UID:
196721
Concept ID:
C0751083
Disease or Syndrome
Synonym: Duane syndrome type 2
 
Gene (location): CHN1 (2q31.1)
 
Monarch Initiative: MONDO:0011444
OMIM®: 604356

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 (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010). For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (126800).  http://www.omim.org/entry/604356

Clinical features

From HPO
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Kalevar A, Ong Tone S, Flanders M
Can J Ophthalmol 2015 Aug;50(4):310-3. doi: 10.1016/j.jcjo.2015.05.005. PMID: 26257226
Maya JF, de Liaño RG, Catalán MR, Rayward O
Strabismus 2013 Mar;21(1):4-7. doi: 10.3109/09273972.2012.762530. PMID: 23477770
Helveston EM, Neely DE, Cherwek DH, Smallwood LM
Telemed J E Health 2008 Aug;14(6):531-8. doi: 10.1089/tmj.2007.0086. PMID: 18729751

Recent clinical studies

Etiology

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

Therapy

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...