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Duane Syndrome

Synonyms: Duane Anomaly, Isolated; Duane Retraction Syndrome; Stilling-Turk-Duane Syndrome

, MSc, , MD, PhD, and , MD.

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Initial Posting: ; Last Update: March 19, 2015.


Clinical characteristics.

Duane syndrome is a strabismus syndrome characterized by congenital non-progressive horizontal ophthalmoplegia (inability to move the eyes) primarily affecting the abducens nucleus and nerve and its innervated extraocular muscle, the lateral rectus muscle. At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction). In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Most individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head position to align the eyes, and thus can preserve single binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. Approximately 70% of individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies).


The diagnosis of Duane syndrome is based on clinical findings. CHN1 is the only gene in which pathogenic variants are known to cause familial isolated Duane syndrome. Sequence analysis of CHN1 has to date detected pathogenic missense variants in ten probands and affected family members. Pathogenic variants in CHN1 have not been found to be a common cause of simplex Duane retraction syndrome.


Treatment of manifestations: Spectacles or contact lenses for refractive error; occlusion or penalization of the better-seeing eye for treatment of amblyopia; prism glasses (usually in older individuals with mild involvement) to improve the compensatory head position; extraocular muscle surgery to correct or improve compensatory head posture, improve alignment in primary gaze position, and improve upshoot or downshoot.

Prevention of secondary complications: Specialist examination early in life to detect refractive errors to prevent amblyopia and avoid compounding the motility problem; amblyopia therapy to prevent vision loss in the less preferred eye; surgery to prevent loss of binocular vision in individuals who abandon the compensatory head posture and allow strabismus to become manifest.

Surveillance: Ophthalmologic visits every three to six months during the first years of life to prevent, detect, and treat amblyopia; annual or biannual eye examinations when no longer at risk for amblyopia (age >7-12 years, depending on binocular vision status).

Evaluation of relatives at risk: Eye examination within the first year of life so that early diagnosis and treatment can prevent secondary complications.

Genetic counseling.

Most individuals with isolated Duane syndrome represent simplex cases (i.e., a single occurrence in a family) of unknown cause. Isolated Duane syndrome resulting from a heterozygous pathogenic variant in CHN1 is inherited in an autosomal dominant manner with incomplete penetrance. A proband with isolated Duane syndrome may have inherited the pathogenic variant or have a de novo variant. Each child of an individual with Duane syndrome resulting from a CHN1 pathogenic variant has a 50% chance of inheriting the condition. Prenatal diagnosis is possible for pregnancies at increased risk for isolated Duane syndrome if the pathogenic variant has been identified in an affected family member.


The diagnosis of Duane syndrome is based on clinical findings. Most individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). The vast majority of individuals with isolated Duane syndrome represent simplex cases (i.e., a single occurrence in a family). This GeneReview focuses on isolated Duane syndrome. (See Differential Diagnosis for a discussion of Duane syndrome with associated congenital anomalies.)

Suggestive Findings

Duane syndrome, a congenital, non-progressive eye movement disorder, should be suspected in individuals who present with the following features:

  • Congenital limitation of abduction and/or adduction
  • Globe retraction (co-contraction) on adduction
  • Palpebral fissure (i.e., the separation between the upper and lower eyelids) narrowing on adduction.

Note: Adduction is movement of the globe toward the midline (the nose); abduction is movement of the globe away from the midline (toward the ear).

Establishing the Diagnosis

The diagnosis of Duane syndrome is established in a proband by detection of one of the three sets of clinical findings (type 1, 2, or 3) detailed below. Screening of a cohort of 140 probands with a negative family history of Duane syndrome failed to identify a pathogenic CHN1 variant; therefore, molecular genetic testing of CHN1 is recommended in familial cases only (see Table 1).

Clinical findings

Type 1 (~75%-80% of all Duane syndrome) is characterized by the following:

  • Absent to markedly restricted abduction
  • Normal to mildly restricted adduction
  • Retraction of the globe and narrowing of the palpebral fissure on adduction
  • Upshoot and downshoot of affected globe on attempted adduction
  • Esotropia in primary gaze (variably present)
  • Head turn toward involved side (variably present)
  • Unilateral or bilateral involvement

Type 2 (~5%-10% of all Duane syndrome) is characterized by the following:

  • Absent to markedly restricted adduction
  • Normal to mildly restricted abduction
  • Retraction of the globe and narrowing of the palpebral fissure (the separation between the upper and lower eyelids) on adduction
  • Upshoot and downshoot of affected globe on attempted adduction (variably present)
  • Exotropia in primary gaze (variably present)
  • Head turn toward uninvolved side (variably present)
  • Unilateral or bilateral involvement

Type 3 (~10%-20% of all Duane syndrome) is characterized by the following:

  • Absent to markedly restricted abduction
  • Absent to markedly restricted adduction
  • Retraction of the globe and narrowing of the palpebral fissure on attempted adduction
  • Upshoot and downshoot of affected globe on attempted adduction (more common than in types 1 or 2)
  • Esotropia or exotropia in primary gaze (variably present)
  • Head turn toward involved side (variably present)
  • Unilateral or bilateral involvement

Molecular genetic testing. Testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing.

  • Single-gene testing. Sequence analysis of CHN1 is performed first followed by gene-targeted deletion/duplication analysis if no pathogenic variant is found.
  • A multigene panel that includes CHN1 and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
  • More comprehensive genomic testing (when available) including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered if single-gene testing (and/or use of a multigene panel that includes CHN1) fails to confirm a diagnosis in an individual with features of Duane syndrome. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene that results in a similar clinical presentation). For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Table 1.

Molecular Genetic Testing Used in Duane Syndrome

Gene 1Test MethodProportion of Probands with a Pathogenic Variant Detectable by This Method
CHN1Sequence analysis 210/10 3
Deletion/duplication analysis 4Unknown 5

See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants detected in this gene.


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.


Wang et al [2014] described five chromosome rearrangements and a 2q31.1 microdeletion with reduced CHN1 expression. Patient was described as having crossed eyes but not Duane syndrome.

Clinical Characteristics

Clinical Description

Duane syndrome is a strabismus syndrome characterized by congenital non-progressive horizontal ophthalmoplegia (inability to move the eyes) without ptosis (droopy eyelids) primarily affecting the abducens nucleus and nerve and its innervated extraocular muscle, the lateral rectus muscle. At birth, affected individuals have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction). In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. The left side is more commonly affected in most studies.

The female-to-male ratio for simplex cases is 3:2.

Restriction in vertical movement of the eyes may also be found in association with pathogenic variants in CHN1.

Strabismus, the deviation of the position of one eye relative to the other, results in misalignment of the line of sight of the two eyes. Many individuals with Duane syndrome have strabismus in primary gaze; esotropia is more common in Duane syndrome type 1 and exotropia in Duane syndrome type 2. The impaired movement of one eye with respect to the other allows individuals with strabismus in primary gaze to use a compensatory head turn in order to align the eyes, thus avoiding diplopia and preserving single binocular vision.

Amblyopia occurs in approximately 10% of individuals with Duane syndrome; these persons are typically a subset of those with Duane syndrome who lack binocular vision. The amblyopia in Duane syndrome responds to standard therapy if detected early; if not treated promptly, the vision loss from amblyopia is irreversible.

Visual acuity is good except in those individuals with amblyopia.

Marcus Gunn jaw-winking phenomenon. Individuals with Duane syndrome and Marcus Gunn jaw-winking phenomenon have been reported, lending support to the idea that the two syndromes are primarily neurogenic in origin [Isenberg & Blechman 1983, Oltmanns & Khuddus 2010, Gupta et al 2014].

Neuroimaging. Magnetic resonance imaging (MRI) in simplex cases has verified the absence of cranial nerve VI.

Orbital and brain stem MRI of affected members of two pedigrees with a CHN1 pathogenic variant did not visualize the abducens nerve in most affected individuals and revealed structurally abnormal lateral rectus muscles. The oculomotor and optic nerves were also small [Demer et al 2007]. Decreased superior oblique muscle volume has also been observed, supporting trochlear nerve hypoplasia [Miyake et al 2011]. This leads to the suggestion that Duane syndrome resulting from pathogenic variants in CHN1 represents a congenital cranial dysinnervation disorder that results from errors in abducens, trochlear, and oculomotor axon pathfinding.


It is generally believed that Duane syndrome results from maldevelopment of motor neurons in the abducens nucleus and aberrant innervation of the lateral rectus muscle. Early studies of Duane syndrome reported fibrosis of the lateral rectus or medial rectus muscles, and suggested a primary myopathic etiology for this disorder. Subsequently, several postmortem examinations of individuals with simplex Duane syndrome revealed absence of the abducens motor neurons and ipsilateral cranial nerve VI, and partial innervation of the lateral rectus muscle(s) by branches from the oculomotor nerve. Electromyography revealed simultaneous activation of the medial and lateral rectus muscles, supporting co-contraction of these two horizontal muscles as the cause of the globe retraction.

Genotype-Phenotype Correlations

The incidence of bilateral involvement and vertical movement abnormalities in individuals with Duane syndrome in whom a CHN1 pathogenic variant is identified is higher than that found in individuals with Duane syndrome who (a) do not have a CHN1 pathogenic variant and (b) do not represent simplex cases (i.e., a single occurrence in a family) [Chung et al 2000, Demer et al 2007, Engle et al 2007, Miyake et al 2008, Miyake et al 2011].


Duane syndrome families in whom a CHN1 pathogenic variant has been identified may have reduced penetrance [Engle et al 2007, Miyake et al 2008, Chan et al 2011].


Historically, Duane syndrome was initially proposed to be myogenic in origin. Electromyography (EMG) of the EOMs, postmortem examinations, and MRI, however, now support a neurogenic etiology [Demer et al 2007]. This has led to the proposed renaming of Duane syndrome as the "co-contractive retraction syndrome" (CCRS, types 1-3) [Hertle 2002] and classifying it as one of the ocular congenital cranial dysinnervation disorders (CCDD) [Gutowski et al 2003, Engle 2006].

Duane syndrome is named for the ophthalmologist Alexander Duane (1858-1926).


Duane syndrome accounts for 1%-5% of all cases of strabismus.

Isolated Duane syndrome in familial and simplex cases has been identified worldwide. The prevalence of Duane syndrome is estimated at 1:1,000 in the general population.

Differential Diagnosis

Duane syndrome with associated congenital anomalies. Approximately 30% of individuals with Duane syndrome have other congenital anomalies, particularly of the ear, kidney, heart, upper limbs, and skeleton. These associated anomalies are typically reported in simplex cases, but also occur together with Duane syndrome as familial malformation or genetic syndromes.

  • SALL4-related disorders. The SALL4-related syndromes include Okihiro syndrome, Duane-radial ray syndrome, acro-renal-ocular syndrome, and IVIC syndrome. These overlapping syndromes are characterized by unilateral or bilateral Duane syndrome and radial ray malformations that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly). Deafness, renal anomalies, and imperforate anus can be co-inherited. Inheritance is autosomal dominant. Heterozygous SALL4 pathogenic variants are associated with most familial cases of these syndromes [Al-Baradie et al 2002, Kohlhase et al 2002, Kohlhase et al 2003, Kohlhase et al 2005, Paradisi & Arias 2007, Yang et al 2013]. Individuals with simplex isolated Duane syndrome have not been found to harbor pathogenic variants in SALL4 [Wabbels et al 2004]. However, some members of families segregating a SALL4-related disorder have been found to harbor a SALL4 pathogenic variant and to manifest isolated Duane syndrome (without hand or other anomalies) [Al-Baradie et al 2002].
  • SALL1-related disorders. Townes-Brocks syndrome (TBS) has been found to result from pathogenic variants in SALL1 [Kohlhase et al 1998]. This rare disorder is characterized by anal, ear, limb, and renal anomalies and is an autosomal dominantly inherited malformation syndrome. SALL1 pathogenic variants have been reported in three individuals with TBS and Duane syndrome [Botzenhart et al 2007, Barry & Reddy 2008, van den Akker et al 2009]. Additional ophthalmic findings in these individuals included coloboma, ptosis, epibulbar dermoid, and crocodile tears.
  • HOXA1-related syndromes. The HOXA1-related syndromes include the overlapping Bosley-Salih-Alorainy syndrome (BSAS; OMIM 601536) [Tischfield et al 2005, Bosley et al 2008] and Athabascan brain stem dysgenesis syndrome (ABDS) [Holve et al 2003]. These disorders result from pathogenic truncating variants in HOXA1. Inheritance is autosomal recessive. BSAS and ABDS are characterized by Duane syndrome type 3 or horizontal gaze palsy and, in most individuals, bilateral sensorineural hearing loss caused by an absent cochlea and rudimentary inner-ear development. Subsets of individuals manifest intellectual disability, autism, moderate-to-severe central hypoventilation, facial weakness, swallowing difficulties, vocal cord paresis, conotruncal heart defects, and skull and craniofacial abnormalities. Individuals with simplex isolated Duane syndrome have not been found to harbor pathogenic variants in HOXA1 [Tischfield et al 2006].
  • Wildervanck syndrome (cervicooculoacoustic syndrome; OMIM 314600) is characterized by Duane syndrome, deafness, and Klippel-Feil anomaly (fused cervical vertebrae). The sensorineural deafness results from a bony malformation of the inner ear. Most Wildervanck syndrome is sporadic and limited to females. A case report describes a male with Wildervanck syndrome and a 3-kb deletion at Xq26.3 encompassing one gene, FGF13, which encodes a protein that acts intracellularly in neurons throughout brain development [Abu-Amero et al 2014].
  • Goldenhar syndrome (hemifacial microsomia, oculoauriculovertebral spectrum) is characterized by craniofacial, ocular, cardiac, vertebral, and central nervous system defects, consistent with maldevelopment of the first and second branchial arches. Duane syndrome can be associated with this disorder [Tillman et al 2002, Caca et al 2006, Shrestha & Adhikari 2012]. The majority of cases are sporadic, but there are a few reports of both autosomal dominant and recessive inheritance (see Craniofacial Microsomia Overview).

Chromosome disorders

  • Chromosome 8. Several individuals with Duane syndrome have been reported to have chromosome 8 anomalies: anomalies of the 8q13 DURS1 locus (OMIM 126800); mosaic trisomy 8 (2 separate reports); deletion 8q13-q21.2; a de novo reciprocal balanced translocation consisting of t(6:8)(q26;q13) disrupting the gene for carboxypeptidase (CPAH); duplication (or microduplication) of 8q12 [Lehman et al 2009, Amouroux et al 2012, Baroncini et al 2013]; and 8p11.2 deletion [Abu-Amero et al 2015]. Three reports suggest that abnormal dosage of CHD7 may be causative of the resultant phenotype on 8q12. Individuals described in these case reports manifest Duane syndrome with various associated congenital abnormalities including other cranial nerve deficits, facial dysmorphisms, intellectual disabilities, and cardiac defects.
  • Other chromosome aberrations associated with Duane syndrome have been reported to involve 2q13, 4q27-31, 6p25, 7, 10q24.2q26.3, 12q24.31, 19q13.4, 20q13.12 and 22pter-q13.31. Duane syndrome has been described in one individual with 48,XXYY syndrome and another with atypical Silver-Russell syndrome, Duane syndrome, and maternal uniparental disomy of chromosome 7.

Individuals with Duane syndrome and associated congenital defects should be evaluated further for possible underlying chromosome rearrangements.

Ocular congenital cranial dysinnervation disorders. The term congenital cranial dysinnervation disorders (CCDDs) refers to disorders of innervation of cranial musculature [Gutowski et al 2003]. The ocular CCDDs are also included in the category of complex or incomitant strabismus, in which the degree of misalignment of the eyes varies with the direction of gaze.

Duane syndrome is the most common of the ocular CCDDs. Other ocular CCDDs include the following:

  • Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically defined syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, and Tukel syndrome. CFEOM is characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) that is restrictive and includes some limitation of vertical gaze. It often (but not necessarily) includes ptosis (droopy eyelids). It typically results from aberrant development of all or part of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpebrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). In general, affected individuals have severe limitation of vertical gaze and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, facial weakness, a progressive axonal peripheral neuropathy (a form of Charcot-Marie-Tooth disease), vocal cord paralysis, tracheomalacia, cyclic vomiting, and Kallmann syndrome (hypogonadotropic hypogonadism and anosmia [Tischfield et al 2010, Chew et al 2013]. Individuals with CFEOM3C also have intellectual disability and facial dysmorphism reminiscent of Albright hereditary osteodystrophy-like syndrome. Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands.
  • Moebius syndrome (MBS) (OMIM 157900) is characterized by sixth and seventh nerve palsies, resulting in abduction defect and facial weakness. The vast majority of individuals with Moebius syndrome represent simplex cases (i.e., single occurrence in a family) and many are associated with additional developmental defects of lower cranial nerves and distal extremities.
  • Hereditary congenital facial paresis (HCFP) (OMIM 604185, OMIM 614744) is characterized by the isolated dysfunction of cranial nerve VII. It may be confused with Moebius syndrome if it is coincidentally accompanied by strabismus. HCFP3 is caused by a homozygous pathogenic variant in HOXB1 [Webb et al 2012].
  • Horizontal gaze palsy with progressive scoliosis (HGPPS) (OMIM 607313) is characterized by congenital horizontal gaze palsy (no horizontal eye movements) accompanied by progressive scoliosis. HGPPS is inherited in an autosomal recessive manner and is caused by pathogenic variants in ROBO3 [Jen et al 2004]. Compound heterozygous ROBO3 pathogenic variants have also been identified in children of non-consanguineous parents [Chan et al 2006]. Neuroimaging and neurophysiology studies of individuals with HGPPS found that the axons that make up the major motor and sensory pathways for communication between the brain and the spinal cord fail to cross the midline in the hindbrain [Jen et al 2004, Bosley et al 2005].

Complex and common forms of strabismus that could be confused with Duane syndrome:

  • Common strabismus. In common or comitant strabismus, the misalignment of the eyes is equal regardless of the direction of gaze. Common strabismus includes esotropia, exotropia, dissociated vertical deviation, microstrabismus, and monofixation syndrome.
  • Sixth nerve palsy is characterized by impaired abduction of the affected eye in the absence of globe retraction and narrowing of the palpebral fissure. Sixth nerve palsy may be accompanied by esotropia. Sixth nerve palsies are typically acquired; however, congenital and/or inherited cases are rare but have been reported.
  • Crossed fixation. The signs of Duane syndrome may be difficult to detect in an infant with large-angle esotropia. In such infants, the right eye is used for left gaze and the left eye is used for right gaze. As a result, the child may appear to have an abduction limitation when in fact abduction is found to be full when tested monocularly.
  • Congenital ocular motor apraxia is a rare disorder of horizontal gaze in which affected individuals are unable to generate horizontal saccades. Horizontal tracking requires head movement, but the head must be thrust past the object of regard in order to overcome the intact doll's head response. Vertical saccades are preserved.
  • Brown syndrome ("superior oblique tendon sheath syndrome") is characterized by the inability to elevate the adducted eye actively or passively. Forced duction testing is positive for tightness of the superior oblique muscle. The downshoot seen in Duane syndrome can mimic Brown syndrome. Most congenital Brown syndrome is simplex (i.e., single occurrence in a family) and believed to result from anomalies of the tendon or the trochlear apparatus. Rare familial cases have been reported [Iannaccone et al 2002].
  • Infantile esotropia and exotropia refer to eye conditions in which the eye(s) are either crossed or deviating outwards. There is evidence of both genetic and environmental components to these disorders.


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Duane syndrome, the following evaluations are recommended:

  • Family history
  • Ophthalmologic examination
    • Determination of primary gaze position, head position with eyes in primary position, and horizontal and vertical gaze restrictions
    • Evaluation for aberrant movements. Globe retraction with narrowing of the palpebral fissure in adduction is the sine qua non of Duane syndrome. Other features sometimes observed include up- and downshoot on attempted adduction and Marcus Gunn jaw wink.
  • Optional forced duction testing and/or force generation testing in cooperative individuals
  • Photographic documentation to identify changes in the condition and for future review
  • If surgery is planned, consideration of brain and orbital MRI to determine brain stem and orbital anatomy (muscles and nerves)
  • General physical examination. Because of association with systemic anomalies, affected children should have a complete physical examination.
  • If surgery is performed, forced duction testing to confirm tightness of the horizontal rectus muscles

The following may be considered:

Treatment of Manifestations

Nonsurgical treatment of ophthalmologic findings

  • Refractive errors may be managed with spectacles or contact lenses. Specialist examination is required to detect refractive errors early in life, when affected individuals may be asymptomatic, to prevent amblyopia and avoid compounding the motility problem with a focusing problem.
  • Amblyopia can be treated effectively with occlusion or penalization of the better-seeing eye. Early detection (in the first years of life) maximizes the likelihood of a good response to treatment.
  • Prism glasses may improve the compensatory head position in mild cases. They are more likely to be tolerated by older persons.
  • Correction of hypermetropic refractive error in children may reduce the angle of strabismus and thus decrease the angle of head turn.

Surgical treatment of ophthalmologic findings (extraocular muscle surgery)

  • To correct or improve compensatory head posture
  • To improve alignment in primary gaze position
  • To improve upshoot or downshoot

Note: Surgery does not generally improve abduction of the affected eye, though transposition procedures may provide partial improvement in some cases.

Principles of surgical approach (as reviewed in Kekunnaya et al [2015])

  • Type 1 and type 3. If head turn is present, consider recession of the medial rectus muscle or horizontal transposition of the vertical rectus muscles. Vertical rectus muscle transposition may be augmented, either with posterior augmentation sutures on the transposed muscles, or with botulinum toxin injections into the medial rectus muscle. Both the superior and inferior rectus muscles may be transposed, or alternatively the superior rectus muscle alone may be transposed in combination with a medial rectus muscle recession. If up- and/or downshoot occurs in adduction, or if globe retraction is severe and creates a deformity, consider recession of both the medial and lateral rectus muscles. Y-splitting of the lateral rectus muscle may decrease the amount of recession required.
  • Type 2. If head turn is present, consider recession of the ipsilateral lateral rectus muscle if the affected individual fixates with the uninvolved eye, and the contralateral lateral rectus if the affected individual fixates with the involved eye. If upshoot or downshoot occurs in adduction, consider recession of the lateral rectus muscle, possibly with Y-splitting.

Prevention of Secondary Complications

The following are appropriate:

  • Amblyopia therapy to prevent vision loss in the less preferred eye
  • Surgery to prevent loss of binocular vision in individuals who abandon the compensatory head posture and allow strabismus to become manifest


Surveillance is important for prevention of amblyopia, and to treat amblyopia if it occurs.

  • Routine ophthalmologic visits every three to six months during the first years of life
  • Annual or biannual examinations in affected individuals older than age seven to 12 years who have good binocular vision and thus are no longer at risk for amblyopia

Evaluation of Relatives at Risk

Ophthalmologic examination within the first year of life is appropriate in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures. If the CHN1 pathogenic variant in the family is known, molecular genetic testing can be used to clarify the genetic status of at-risk relatives.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search in the US and in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Most individuals with Duane syndrome represent simplex cases (i.e., single occurrence in a family).

Isolated Duane syndrome caused by a pathogenic variant in CHN1 is inherited in an autosomal dominant manner with incomplete penetrance.

Risk to Family Members – Autosomal Dominant Inheritance (Isolated Duane Syndrome)

Parents of a proband

  • Some individuals diagnosed with isolated Duane syndrome have an affected parent.
  • A proband with Duane syndrome may have the disorder as the result of a de novo CHN1 pathogenic variant.
  • Recommendations for the evaluation of parents of a proband with isolated Duane syndrome include ophthalmologic examinations. Evaluation of parents may determine that one is affected but has escaped previous diagnosis because of a milder phenotypic presentation. Therefore, an apparently negative family history cannot be confirmed until appropriate evaluations have been performed.
  • Although some individuals diagnosed with isolated Duane syndrome have an affected parent, the family history may appear to be negative because of reduced penetrance in this disorder.

Sibs of a proband

  • The risk to sibs of a proband with isolated Duane syndrome depends on the genetic status of the proband's parents.
  • If a parent of the proband is affected, the risk to each sib is 50%.
  • When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low but cannot be accurately determined.

Offspring of a proband. Each child of an individual with Duane syndrome and a CHN1 pathogenic variant has a 50% chance of inheriting the pathogenic variant.

Other family members of a proband. The risk to other family members depends on the status of the proband's parents: if a parent is affected, his or her family members are at risk.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Considerations in families with an apparent de novo pathogenic variant. When neither parent of a proband with an autosomal dominant condition has the pathogenic variant or clinical evidence of the disorder, it is likely that the proband has a de novo pathogenic variant. However, possible non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption could also be explored.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Diagnosis

Once the CHN1 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for isolated Duane syndrome are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. While most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these issues is appropriate.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Duane Syndrome: Genes and Databases

Locus NameGeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
DURS2CHN12q31​.1N-chimaerinCHN1 databaseCHN1CHN1

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Duane Syndrome (View All in OMIM)

118423CHIMERIN 1; CHN1

Gene structure. Alternatively spliced transcript variants encoding different isoforms have been described for this gene (see Table A, Gene). The longest CHN1 transcript variant (NM_001822.5) has 13 exons.

Pathogenic variants. Ten different heterozygous missense changes have been identified in CHN1 [Miyake et al 2008, Chan et al 2011, Miyake et al 2011]. All ten nucleotide substitutions cosegregated with the affected haplotypes. None were present in online single-nucleotide databases or on 788 control chromosomes. Six of the ten resulted in non-conservative amino acid substitutions. All were predicted to alter amino acids that are conserved in CHN1 orthologs of eight different species. Miyake et al [2011] described the pathogenic variant NM_001822.5:c.443A>T; NP_001813.1:p.Tyr148Phe, which expanded the phenotypic spectrum of hyperactivating CHN1 pathogenic variants.

Normal gene product. There are multiple N-chimaerin isoforms. N-chimaerin has three domains: an N-terminal SH2 domain, a C-terminal RhoGAP domain, and a central C1 domain similar to protein kinase C. No pathogenic variants have been identified in the N-terminal SH2 domain. The longest isoform NP_001813.1 has 459 amino acid residues.

Abnormal gene product. All identified pathogenic variants act as gain-of-function variants that increase N-chimaerin (α2-chimaerin RacGAP) activity in vitro. Several pathogenic variants appear to enhance N-chimaerin translocation to the cell membrane or enhance its ability to self-associate. To test the hypothesis that N-chimaerin overactivity results in aberrant axon development in vivo, a chick in ovo system was used to overexpress wild type and mutated α2-chimaerin in the embryonic ocular motor nucleus [Miyake et al 2008]. In the majority (71%-87%) of embryos overexpressing wild type or mutated constructs, the oculomotor nerve stalled and its axons terminated prematurely adjacent to the dorsal rectus muscle. It is possible with the p.Tyr148Phe amino acid substitution reported by Miyake et al [2011] that the variable phenotype is a result of both hyperactivation of α2-chimaerin and interaction of its SH2 of Rac-GAP domains with other proteins. Ferrario et al [2012] provided data supporting the hypothesis that α2-chimaerin mediates Sema3-PlexinA repellent signaling and is required for oculomotor neurons to respond to CXCL12 and hepatocyte growth factor (HGF), which are growth promoting and chemoattractant during oculomotor axon guidance. This suggests that α2-chimaerin integrates different types of guidance information to orchestrate ocular motor pathfinding and that Duane syndrome can result from incorrect regulation of this signaling pathway.


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Suggested Reading

  • Bayrakli F, Bilguvar K, Ceyhan D, Ercan-Sencicek AG, Cankaya T, Bayrakli S, Guney I, Mane SM, State MW, Gunel M. Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clin Genet. 2010;77:499–502. [PubMed: 20447154]
  • Bedoyan JK, Lesperance MM, Ackley T, Iyer RK, Innis JW, Misra VK. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. Am J Med Genet A. 2011;155A:154–63. [PMC free article: PMC4533830] [PubMed: 21204225]
  • Chew CK, Foster P, Hurst JA, Salmon JF. Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion. Am J Ophthalmol. 1995;119:807–9. [PubMed: 7785704]
  • Evans JC, Frayling TM, Ellard S, Gutowski NJ. Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet. 2000;106:636–8. [PubMed: 10942112]
  • Mehendale RA, Dagi LR, Wu C, Ledoux D, Johnston S, Hunter DG. Superior rectus transposition and medial rectus recession for Duane syndrome and sixth nerve palsy. Arch Ophthalmol. 2012;130:195–201. [PMC free article: PMC3753366] [PubMed: 22332212]
  • Smith SB, Traboulsi EI. Duane syndrome in the setting of chromosomal duplications. Am J Ophthalmol. 2010;150:932–8. [PubMed: 20933218]
  • Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R. Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet A. 2010;152A:2342–5. [PubMed: 20684011]
  • Weis A, Bialer MG, Kodsi S. Duane syndrome in association with 48,XXYY karyotype. J AAPOS. 2011;15:295–6. [PubMed: 21680214]

Chapter Notes

Author Notes

Boston Children’s Hospital
Intellectual and Developmental Disabilities Research Center (IDDRC) website

Department of Neurology, Howard Hughes Medical Institute
Engle Laboratory website

Revision History

  • 19 March 2015 (me) Comprehensive update posted live
  • 5 July 2012 (me) Comprehensive update posted live
  • 18 February 2010 (me) Comprehensive update posted live
  • 25 May 2007 (me) Review posted live
  • 23 February 2007 (ee) Original submission
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