Description
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 it may also limit inward eye movement (toward the nose). In people with this condition, the eyeball pulls back (retracts) into its socket and the eyelid opening narrows as the eye moves inward. Due to these movement limitations, the eyes often do not look in the same direction (strabismus). Instead, affected individuals may need to turn their head to track objects with both eyes.
Normally, only one eye is affected (most commonly the left eye) in people with isolated Duane retraction syndrome. About 10 percent of people with this condition also 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. The remaining cases of Duane retraction syndrome occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder and 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 are differentiated by which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by a retraction of the eyeball as the eye moves inward.
Frequency
Isolated Duane retraction syndrome is estimated to affect 1 in 1,000 to 10,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of strabismus.
Causes
In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified variants (also called mutations) in the CHN1 gene that cause the disorder in some affected individuals.
The CHN1 gene provides instructions for making a protein called N-chimaerin. This protein is involved in the early development of the nervous system. Specifically, the protein appears to be critical for the formation of nerves that send movement signals to several of the muscles surrounding the eyes (extraocular muscles). Variants in the CHN1 gene disrupt the normal development of these nerves so they cannot effectively control the extraocular muscles. Impaired function of these muscles leads to restricted eye movement and related problems with vision.
Variants in other genes can cause isolated Duane retraction syndrome in a small number of people.
Inheritance
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 gene variants, it has an autosomal dominant inheritance pattern.
Other Names for This Condition
- Co-contractive retraction syndrome
- Duane anomaly, isolated
- Duane retraction syndrome
- Duane syndrome
- Duane's syndrome
- Ocular retraction syndrome
- Stilling-Turk-Duane syndrome
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
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- Barry BJ, Whitman MC, Hunter DG, Engle EC. Duane Syndrome. 2007 May 25 [updated 2019 Aug 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1190/ Citation on PubMed
- 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. doi: 10.1167/iovs.06-0632. Citation on PubMed or Free article on PubMed Central
- 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. doi: 10.1167/iovs.06-0631. Citation on PubMed or Free article on PubMed Central
- 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. Citation on PubMed or Free article on PubMed Central
- 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. Citation on PubMed
- Prasad P, Saxena A, Saxena R. Duane syndrome: An overview on the current management. Taiwan J Ophthalmol. 2023 Dec 20;13(4):489-499. doi: 10.4103/tjo.TJO-D-23-00078. eCollection 2023 Oct-Dec. Citation on PubMed
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