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Genetics Home Reference: your guide to understanding genetic conditions
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Isolated Duane retraction syndrome

Reviewed March 2009

What is isolated Duane retraction syndrome?

Isolated Duane retraction 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. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye.

About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands.

Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. 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.

How common is isolated Duane retraction syndrome?

Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of abnormal eye alignment (strabismus). For unknown reasons, isolated Duane syndrome affects females more often than males.

What genes are related to isolated Duane retraction syndrome?

In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified mutations in one gene, CHN1, that cause the disorder in a small number of families. The CHN1 gene provides instructions for making a protein that is involved in the early development of the nervous system. Specifically, the protein appears to be critical for the formation of nerves that control several of the muscles surrounding the eyes (extraocular muscles). Mutations in the CHN1 gene disrupt the normal development of these nerves and the extraocular muscles needed for side-to-side eye movement. Abnormal function of these muscles leads to restricted eye movement and related problems with vision.

Related Gene(s)

Changes in this gene are associated with isolated Duane retraction syndrome.

  • CHN1

How do people inherit isolated Duane retraction syndrome?

Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown.

Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern.

In a few families with isolated Duane retraction syndrome, the pattern of affected family members suggests autosomal recessive inheritance. In these families, one or more children are affected, although the parents typically have no signs or symptoms of the condition. The parents of children with an autosomal recessive condition are called carriers, which means they carry one mutated copy of a gene in each cell. In affected children, both copies of the gene in each cell are mutated. However, researchers have not discovered the gene or genes responsible for autosomal recessive isolated Duane retraction syndrome.

Where can I find information about diagnosis or management of isolated Duane retraction syndrome?

These resources address the diagnosis or management of isolated Duane retraction syndrome and may include treatment providers.

  • Gene Review: Duane Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1190/)
  • Genetic Testing Registry: Duane's syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0013261)
  • MedlinePlus Encyclopedia: Extraocular Muscle Function Testing (http://www.nlm.nih.gov/medlineplus/ency/article/003397.htm)

You might also find information on the diagnosis or management of isolated Duane retraction syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about isolated Duane retraction syndrome?

You may find the following resources about isolated Duane retraction syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for isolated Duane retraction syndrome?

  • co-contractive retraction syndrome
  • Duane anomaly, isolated
  • Duane retraction syndrome
  • Duane's syndrome
  • Duane syndrome
  • ocular retraction syndrome
  • Stilling-Turk-Duane syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about isolated Duane retraction syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding isolated Duane retraction syndrome?

amblyopia ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; congenital ; extraocular muscles ; familial ; gene ; inheritance ; inheritance pattern ; lazy eye ; nervous system ; pattern of inheritance ; protein ; recessive ; strabismus ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Appukuttan B, Gillanders E, Juo SH, Freas-Lutz D, Ott S, Sood R, Van Auken A, Bailey-Wilson J, Wang X, Patel RJ, Robbins CM, Chung M, Annett G, Weinberg K, Borchert MS, Trent JM, Brownstein MJ, Stout JT. Localization of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet. 1999 Dec;65(6):1639-46. (http://www.ncbi.nlm.nih.gov/pubmed/10577917?dopt=Abstract)
  • Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome. Ophthalmology. 2000 Mar;107(3):500-3. (http://www.ncbi.nlm.nih.gov/pubmed/10711888?dopt=Abstract)
  • Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):194-202. (http://www.ncbi.nlm.nih.gov/pubmed/17197533?dopt=Abstract)
  • Engle EC, Andrews C, Law K, Demer JL. Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):189-93. (http://www.ncbi.nlm.nih.gov/pubmed/17197532?dopt=Abstract)
  • 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 Jun;106(6):636-8. (http://www.ncbi.nlm.nih.gov/pubmed/10942112?dopt=Abstract)
  • Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24. (http://www.ncbi.nlm.nih.gov/pubmed/18653847?dopt=Abstract)
  • Mohan K, Sharma A, Pandav SS. Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients. J AAPOS. 2008 Dec;12(6):576-80. doi: 10.1016/j.jaapos.2008.04.015. Epub 2008 Aug 23. (http://www.ncbi.nlm.nih.gov/pubmed/18723379?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2009
Published: July 7, 2014