Duane syndrome

Title

Other Names:

Duane anomaly; Duane retraction syndrome; DRS; Duane anomaly; Duane retraction syndrome; DRS; Stilling-Turk-Duane syndrome See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary Summary

Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Usually only one eye is affected. Some people with Duane syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. Most cases occur without other signs and symptoms. There are three forms of Duane syndrome, designated types 1, 2, and 3. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward and are inherited in an autosomal dominant fashion.^[1]

Last updated: 3/26/2012

Symptoms Symptoms

Duane syndrome (DS) is present at birth and is characterized by limitation of horizontal eye movement (a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction), or in both directions). In addition, during adduction, the eyeball pulls in and the eye opening (palpebral fissure) narrows. In some cases, when the eye attempts to look inward, it moves upward or downward. Duane syndrome has 3 sub-types which vary depending on which type of eye movement is most restricted.^[2]

In Duane syndrome type 1, abduction is limited, but adduction is normal or close to normal. The eye opening narrows and the eyeball retracts into the orbit during adduction, and the reverse occurs during abduction. In Duane syndrome type 2, adduction is limited, and abduction is normal or only slightly limited. In Duane syndrome type 3, both adduction and abduction are limited. The eyeball retracts during adduction in types 2 and 3. Each of these three types has been further classified into three subgroups designated A, B, and C to describe the eyes when looking straight.

Duane syndrome is an isolated finding in approximately 70 percent of cases but may be associated with other abnormalities. Major anomalies that may be associated with DS may affect the skeletal system, ears, eyes, nervous system, and/or the kidneys and urinary tract.^[2]

Last updated: 3/26/2012

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Oculomotor nerve palsy	Very frequent (present in 80%-99% of cases)
Short palpebral fissure	Very frequent (present in 80%-99% of cases)
Strabismus	Very frequent (present in 80%-99% of cases)
Abnormal vertebral segmentation and fusion	Frequent (present in 30%-79% of cases)
Anteverted nares	Frequent (present in 30%-79% of cases)
Blepharophimosis	Frequent (present in 30%-79% of cases)
Deeply set eye	Frequent (present in 30%-79% of cases)
Low posterior hairline	Frequent (present in 30%-79% of cases)
Sensorineural hearing impairment	Frequent (present in 30%-79% of cases)
Abnormal form of the vertebral bodies	Occasional (present in 5%-29% of cases)
Abnormality of cardiovascular system morphology	Occasional (present in 5%-29% of cases)
Abnormality of the pupil	Occasional (present in 5%-29% of cases)
Absent radius	Occasional (present in 5%-29% of cases)
Amblyopia	Occasional (present in 5%-29% of cases)
Aniridia	Occasional (present in 5%-29% of cases)
Anorectal anomaly	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the thumb	Occasional (present in 5%-29% of cases)
Blepharospasm	Occasional (present in 5%-29% of cases)
Brachydactyly	Occasional (present in 5%-29% of cases)
Camptodactyly	Occasional (present in 5%-29% of cases)
Central heterochromia	Occasional (present in 5%-29% of cases)
Chorioretinal coloboma	Occasional (present in 5%-29% of cases)
Ectopic kidney	Occasional (present in 5%-29% of cases)
Everted lower lip vermilion	Occasional (present in 5%-29% of cases)
External ear malformation	Occasional (present in 5%-29% of cases)
Facial asymmetry	Occasional (present in 5%-29% of cases)
Hypopigmented skin patches	Occasional (present in 5%-29% of cases)
Hypoplasia of the radius	Occasional (present in 5%-29% of cases)
Hypoplastic iris stroma	Occasional (present in 5%-29% of cases)
Iris coloboma	Occasional (present in 5%-29% of cases)
Irregular hyperpigmentation	Occasional (present in 5%-29% of cases)
Microcephaly	Occasional (present in 5%-29% of cases)
Microcornea	Occasional (present in 5%-29% of cases)
Micrognathia	Occasional (present in 5%-29% of cases)
Narrow internal auditory canal	Occasional (present in 5%-29% of cases)
Nystagmus	Occasional (present in 5%-29% of cases)
Optic disc hypoplasia	Occasional (present in 5%-29% of cases)
Patchy hypopigmentation of hair	Occasional (present in 5%-29% of cases)
Plagiocephaly	Occasional (present in 5%-29% of cases)
Preauricular skin tag	Occasional (present in 5%-29% of cases)
Ptosis	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Short neck	Occasional (present in 5%-29% of cases)
Skeletal muscle atrophy	Occasional (present in 5%-29% of cases)
Spina bifida occulta	Occasional (present in 5%-29% of cases)
Stenosis of the external auditory canal	Occasional (present in 5%-29% of cases)
Talipes equinovarus	Occasional (present in 5%-29% of cases)
Triphalangeal thumb	Occasional (present in 5%-29% of cases)
Webbed neck	Occasional (present in 5%-29% of cases)
Wide nasal bridge	Occasional (present in 5%-29% of cases)

Last updated: 9/1/2017

Cause Cause

Given the evidence that Duane syndrome (DS) results from an absence of the abducens nerve (cranial nerve VI) and aberrant innervation, and that it is associated with other anomalies in some cases, it is thought to result from a disturbance of normal embryonic development by either a genetic or an environmental factor at the time when the cranial nerves and ocular muscles are developing (between the third and sixth week of pregnancy). Genetic studies of two large families with DS inherited autosomal dominantly (without associated abnormalities) established that mutations in the CHN1 gene were found to be the cause in these and several other families.

Duane-radial ray syndrome (DRRS), inherited in an autosomal dominant manner, has been shown to be caused by mutations in the SALL4 gene. However, no SALL4 gene mutations were found in 25 sporadic cases of isolated DS (occurring in one individual in a family with no additional abnormalities).

DS can also be found as part of another complex autosomal recessive disorder (that can include deafness, facial weakness, vascular malformations and leaning difficulties) due to mutations in the HOXA1 gene. In addition, chromosome studies of individuals with DS and other abnormalities have, in rare cases, shown abnormalities that suggest other locations for genes responsible for causing DS.^[3]

Last updated: 3/21/2012

Inheritance Inheritance

The majority of cases of Duane syndrome are sporadic (occurring in individuals with no history of the condition in the family). About 10% of affected individuals appear to have other affected family members. Both autosomal dominant (most commonly) and autosomal recessive forms of Duane syndrome have been documented. In some families with dominant Duane syndrome, it has appeared to "skip a generation" (showing reduced penetrance) and it has also been shown to range in severity within the same family (showing variable expressivity).^[3] Most familial cases are not associated with other anomalies. Given the large percentage of sporadic cases, it seems likely that both genetic and environmental factors play a role in the development of Duane syndrome amongst affected individuals.^[4]^[5]

Last updated: 3/21/2012

Treatment Treatment

The treatment of Duane syndrome may involve surgery. The goal of surgery is to eliminate or improve head turn, eliminate or reduce significant misalignment of the eyes, reduce severe retraction (when they eyeball pulls into the socket as the eye moves toward the nose), and improve upshoots and downshoots (when the eye deviates upward or downward with certain eye movements). No specific surgical technique has been completely successful in eliminating the abnormal eye movements. However, some procedures, used either alone or in combination, may be successful in improving or eliminating head turns and misalignment of the eyes. The choice of procedure varies among affected individuals. The success rate for surgery in eliminating an abnormal head position is estimated to be 79-100%.^[6]

The management of Duane syndrome without surgery may include:^[6]

special seating in school to accommodate a child's head turn
special rear-view mirrors to help during driving
a prism placed on the individual's glasses to correct for the face turn (though this is not commonly used)
vision therapy to treat secondary convergence insufficiency (inability of the eyes to turn towards each other or sustain this position)

More detailed information about the treatment of Duane syndrome is available on Medscape Reference's Web site and can be viewed here. You may need to register to view this information, but registration is free.

Last updated: 2/27/2013

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Yahoo! Duane Syndrome Online Support Group
Website: http://health.groups.yahoo.com/group/duanes/

Do you know of an organization? Send us your suggestions.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American Association for Pediatric Ophthalmology and Strabismus provides a patient information sheet on Duane syndrome. Click on the link to view this information.
Genetics Home Reference (GHR) contains information on Duane syndrome. This website is maintained by the National Library of Medicine.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Duane syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

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The following diseases are related to Duane syndrome. If you have a question about any of these diseases, you can contact GARD.

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I have isolated Duane retraction syndrome. My left has retracted inward towards the nose and it appears smaller than the right. The last few years it really bothers me. I was wondering if there is anything I could do about it. I usually close my big eye a little bit so that they can appear even, but recently I noticed my left eye closing even more. This problem only increases with my left eye getting smaller over the years and it makes a really bad image of my face. If there is anything you can tell me that helps my condition I would be grateful. See answer
Duane syndrome affects my left eye. I have constant ringing in my left ear and neck pain when I look over my left shoulder. Are these issues related to Duane syndrome? My doctors did not know the answer. See answer
My daughter has Duane retraction syndrome. She is also left-handed and has very small ears and ear lobes. No one else on my side of the family, or her father's, have these signs. When her father was younger he experimented with LSD. I don't know how many times he took the drug. I remember hearing years ago that people who have taken LSD might have offspring with missing chromosomes. Has this been verified as being one cause of the major missing chromosome for DRS? See answer
I was born with Duane syndrome. Now I am close to the stage of deciding to have children. What are the chances of my children being born with Duane syndrome? See answer
Can in vitro fertilization cause Duane syndrome? See answer
I have Duane syndrome. These is no known family history. What the probability of passing this condition on to any future offspring? See answer
If a first child is affected by Duane syndrome, what is the likelihood that subsequent children will also be affected? Should genetic counseling be done prior to attempting a second pregnancy? See answer