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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 (DURS) 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

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Recent clinical studies

Etiology

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Diagnosis

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Therapy

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Prognosis

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Clinical prediction guides

Mayer C, Trezek BJ
Cochlear Implants Int 2024 Sep;25(5):394-402. Epub 2024 Aug 28 doi: 10.1080/14670100.2024.2394313. PMID: 39196914
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Recent systematic reviews

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