Duane Retraction Syndrome

All content on Eyewiki is protected by copyright law and the Terms of Service. This content may not be reproduced, copied, or put into any artificial intelligence program, including large language and generative AI models, without permission from the Academy.

Article initiated by:

Rima Patel, MD

All contributors:

Rima Patel, MD, K. David Epley, M.D., S. Grace Prakalapakorn, MD, MPH, Allison Umfress, MD

Assigned editor:

Allison Umfress, MD

Review:

Assigned status Update Pending

 by Allison Umfress, MD on September 1, 2022.

add
Contributing Editors:	add

Duane Retraction Syndrome

DiseasesDB

30810

ICD-10

H50.8

ICD-9

378.71

MeSH

D004370

Duane Retraction Syndrome is a congenital strabismus syndrome occurring in isolated or syndromic forms. It presents with a variety of clinical features including diplopia, anisometropia, and amblyopia.

Disease Entity

378.71 Duane's syndrome

Disease

Duane Retraction Syndrome, also known as Stilling-Turk-Duane Syndrome, was originally described by Alexander Duane in 1905. It is a congenital and non-progressive strabismus syndrome characterized by some or all of the following:

• Complete or less often partial absence of abduction
• Retraction of globe on adduction
• Narrowing of palpebral fissure during adduction (induced ptosis)
• Partial deficiency of adduction
• Oblique movement with attempts at adduction
• Upshoot or downshoot of globe with adduction (Leash Phenomenon)
• Widening of palpebral aperture with abduction
• Deficiency of convergence

Epidemiology

• Prevalence of about 1/1000 in general population
• Females (60%) > Males (40%) 
• Accounts for up to 4% of all strabismus cases
• Most common type of congenital aberrant ocular innervation
• ~70% of cases are isolated 
• ~30% of cases are associated with other congenital anomalies 
  1. Okihiro's syndrome: Duane syndrome and radial ray defects
  2. Wildervanck syndrome: Duane syndrome, Klippel-Feil anomaly, and deafness
  3. Moebius: congenital paresis of facial and abducens cranial nerves
  4. Holt-Oram syndrome: abnormalities of the upper limbs and heart
  5. Morning Glory syndrome: abnormalities of the optic disc
  6. Goldenhar syndrome: malformation of the jaw, cheek and ear, usually on one side of the face
• ~80% of cases occur unilaterally, with a LE predominance

Major Types

There are 3 types of Duane Retraction Syndrome with multiple subgroups existing. The clinical features of the 3 types are similar (as listed below) with the following exceptions:

• Type 1 comprises 75-80% of patients and presents with an esotropia in primary gaze with a compensatory head turn to the involved side.
• Type 2 comprises 5-10% of patients and presents with an exotropia in primary gaze with a compensatory head turn to the uninvolved side.
• Type 3 comprises 10-20% of patients, can present with either an esotropia or exotropia in primary gaze, and will have a compensatory head turn to the involved side. The ability to adduct in this type is absent to restricted as compared to normal to mildly restricted in types 1 and 2.

Etiology

1. Isolated Cases
   • 90% occur sporadically and are commonly unilateral
   • Remaining 10% are inherited and these are commonly bilateral with associated vertical movement abnormalities:
     • Type 1: Autosomal Dominant (locus 8q13)
     • Type 2: Autosomal Dominant (mutation of CHN1 gene at DURS 2 locus 2q31-q32.1)and Autosomal Recessive
2. Syndromic Forms
   • Okihiro's syndrome: Autosomal Dominant (SALL4 mutations)
   • Goldenhar syndrome: mostly sporadic with both autosomal dominant and recessive forms identified
   • Wildervanck syndrome: irregularly dominant manner with incomplete penetrance and variable expressivity

General Pathology

Duane Retraction Syndrome results from an absent or dysplastic abducens motor neurons with aberrant innervations of the lateral rectus muscle by the oculomotor nerve.

Pathophysiology

1. Myogenic Theory: This theory, suggested by earlier studies, indicates there is fibrosis or inelasticity of the lateral rectus muscles and that the medial rectus muscle inserts abnormally far posteriorly.
2. Neurogenic Theory: more commonly accepted
   • Suggested by postmortem studies conducted by M.G. Hotchkiss and coauthors from the John Hopkins University in 1980.
     
   • A disturbance in embryologic development between weeks 4-8 results in an absent abducens nerve with anomalous innervations of the lateral rectus muscle by a branch of the oculomotor nerve.
     
   • Simultaneous activation of the medial and lateral rectus muscles, as demonstrated by EMG studies, may be the cause of global retraction.

EMG Tracing Demonstrating the Neurogenic Theory:

 

Risk Factors

The only known risk factor of an isolated type of Duane Retraction Syndrome is an affected parent, which leads to a 50% chance of passing the gene onto offspring. This risk, however, is only associated with 10% of isolated cases, as 90% of these cases occur sporadically. An affected parent is also a risk factor for the syndromic forms; however, the chance of passing a gene onto offspring varies according to the syndrome.

Primary Prevention

Duane Retraction Syndrome occurs sporadically or is inherited. No means of primary prevention has been identified for this syndrome.

Diagnosis

The diagnosis of Duane Retraction Syndrome is primarily clinical.

Clinical Features

• Strabismus: 76% of individuals have frank strabismus in primary gaze
  
• Limitation of Abduction
  
• Induced Ptosis on Adduction
  
• Poor Binocular Vision
  
• Amblyopia occurs in about 10% of individuals and will respond to standard therapy if detected early
  
• Anisometropia
  
• Compensatory Head Turn to Avoid Diplopia
  
• Good Visual Acuity (except in those with amblyopia)
  

Image Showing Bilateral Duane Retraction Syndrome:

Left Panel: limited abduction of right eye with induced ptosis on adduction of left eye
Right Panel: limited abduction of left eye with induced ptosis on adduction of right eye

Duane Retraction Syndrome of Left Eye with Compensatory Head Tilt

Laboratory Tests

Molecular genetic testing of CHN1 is available, and is recommended only in familial cases.

Imaging Techniques

Imaging is not recommended for diagnostic purposes. Brain and orbital MRI can be completed prior to surgical correction for better visualization of orbital anatomy.

Differential Diagnosis

The differential diagnosis for Duane Retraction Syndrome includes any condition that demonstrates strabismus or limitations of extraocular movements. This includes, but is not limited to, Okihiro’s syndrome, Goldenhar syndrome, Wildervanck syndrome, Moebius Syndrome, Holt-Oram Syndrome, Morning Glory Syndrome, Abducens Nerve Palsy, Brown Syndrome, Marcus Gunn Jaw Winking Syndrome, and Congenital Esotropia.

Management

Evaluation Following Diagnosis

Evaluation should include the following:

• Family history
• Ophthalmologic examination focusing on primary gaze, head position, extraocular movements, and aberrant movements
• Optional forced duction testing and/or force generation testing
• Photographic documentation for future review
• General physical examination to assess for presence of other associated syndromes, including hearing evaluation.
• Evaluation of family members at risk within the first year of life
• Consider genetics counseling if familial pattern identified

Non-Surgical Management

• Spectacles or contact lenses for refractive error
• Prism glasses to improve the compensatory head position
• Treat amblyopia with standard therapy
• Botulinum Toxin: A study published in the Iranian Journal of Ophthalmology in 2008 investigated the efficacy of injecting botulinum toxin A as a treatment in 4 patients. The results concluded that botulinum toxin decreases the amount of deviation and leash phenomenon (upshoot or downshoot of globe with adduction).

Surgical Management

Surgery cannot cure Duane Retraction Syndrome, but it can correct for the deviation in the primary position, thereby improving a compensatory head position that can occur in some individuals. It can also improve the leash phenomenon.

Indications for Surgery

A patient should be considered for surgical correction if he or she has at least one of the following characteristics:

• an abnormal head position greater than or equal to 15 degrees
• a significant deviation in the primary position
• Severe induced ptosis: a reduction of greater than or equal to 50% of the width of the palpebral fissure on adduction

Pre-Surgical Evaluation

• Consider brain and orbital MRI for better visualization of orbital anatomy
• Forced duction testing to confirm tightness of the horizontal rectus muscles

Contraindications to Surgery

• Orthophoria in primary position
• Insignificant face turn
• Young Age

Principles of Surgical Approach

• For types 1 and 3 with head turn: recession of medial rectus muscle or horizontal transposition of vertical rectus muscles
• For types 1 and 3 with Leash Phenomenon and/or severe globe retraction: recession of both medial and lateral rectus muscles with possible Y-splitting of the lateral rectus muscle
• For type 2 with head turn and fixation with uninvolved eye: recession of ipsilateral lateral rectus muscle
• For type 2 with head turn and fixation with involved eye: recession of contralateral lateral rectus muscle
• For type 2 with Leash Phenomenon: recession of lateral rectus muscle with possible Y-splitting

Complications of Surgery

• Undercorrection of primary position esotropia and the compensatory head turn
• Overcorrection leading to secondary exotropia
• New vertical deviations can occur after vertical rectus transposition procedures

Surveillance

• After diagnosis, ophthalmologic exams are required every 3-6 months to evaluate for amblyopia.
• Patients between 7-12 years who are no longer at risk for amblyopia and have good binocular vision can be evaluated annually or biannually.

Additional Resources

• For more information on Duane Retraction Syndrome and a video of the surgery to correct the strabismus associated with this syndrome, please click on the following link to Children’s Hopsital Boston’s webcast page: http://orlive.com/childrenshospitalboston/videos/aligning-the-eyes.