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Duane syndrome


Other Names for this Disease
  • DRS
  • Duane anomaly
  • Duane retraction syndrome
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Overview



What is Duane syndrome?

What are the signs and symptoms of Duane syndrome?

What causes Duane syndrome?

Is Duane syndrome inherited?

How might Duane syndrome be treated?


What is Duane syndrome?

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

What are the signs and symptoms of Duane syndrome?

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

What causes Duane syndrome?

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

Is Duane syndrome inherited?

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

How might Duane syndrome be treated?

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

References
  1. Isolated Duane retraction syndrome. Genetics Home Reference. March 2009; http://ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome. Accessed 11/18/2011.
  2. Duane syndrome. NORD. February 2, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/224/viewAbstract. Accessed 3/26/2012.
  3. Duane syndrome. NORD. February 2, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/224/viewAbstract. Accessed 3/21/2012.
  4. Learning About Duane Syndrome. National Human Genome Research Institute (NHGRI). September 2010; http://www.genome.gov/11508984. Accessed 11/18/2011.
  5. Verma A. Duane Syndrome. eMedicine. March 20, 2008; http://emedicine.medscape.com/article/1198559-overview. Accessed 3/12/2009.
  6. Arun Verma. Duane Syndrome. Medscape Reference. November 17, 2011; http://emedicine.medscape.com/article/1198559-overview. Accessed 2/22/2013.