Duane Retraction Syndrome | Goldenhar, Moebius, Morning Glory

    Duane Retraction Syndrome

    ROQUE Eye Clinic Featured Image Duane Retraction Syndrome

    ROQUE Eye Clinic Featured Image Duane Retraction Syndrome

    Duane Retraction Syndrome

    1What is Duane Retraction Syndrome?

    Duane retraction syndrome is a congenital cranial dysinnervation disorder that may occur in isolation, or sometimes in association with other congenital anomalies (Goldenhar, Moebius, Morning Glory). It affects more females than males.

    Isolated cases are mostly sporadic and unilateral, the left eye is more frequently affected. A minority of the isolated cases are inherited (autosomal dominant and autosomal recessive).

    It is theorized that the clinical presentation of this syndrome stems from the congenital absence of the cranial nerve 6 nucleus, and cranial nerve 3 nucleus sends an aberrant branch to the lateral rectus.

    2How is this condition diagnosed?

    The diagnosis is based on clinical findings. The esotropic type presents with esotropia in primary gaze and a face turn towards the affected eye. The exotropic type presents with exotropia in primary gaze and face turn away from from the affected eye. The clinical type may be straight, esotropic or exotropic in primary position and with a face turn to the affected side, and with severe adduction deficit. Any type may be associated with globe retraction, upshoot or downshoot, and lid changes. Orbital imaging is not always required but may be helpful in visualizing the orbital anatomy.

    3Is genetic testing required?

    Molecular genetic testing for CHN1 gene (autosomal dominant) is available and is recommended only for the familial cases.

    4What are the indications for surgery?

    Surgical indications include significant head turn, deviation in primary gaze, and globe retraction. Eye muscle surgery may involve recession of either medial or lateral rectus, Y split of the lateral rectus to address significant upshoots and downshoots, or vertical rectus transposition to improve abduction. Surgery may be staged, depending on the severity of the case.

    • Doyle, J., and Hunter G. (2019). Transposition procedures in Duane retraction syndrome. J AAPOS, 23(1): 5-14.
    • Velez, F., Velez, G., Hendler, K, and Pineles, S. (2012). Isolated Y-splitting and recession of the lateral rectus muscle in patients with exo-Duane syndrome. Strabismus, 20(3): 109-114.
    Dr. Barbara Roque
    Dr. Barbara Roque
    Dr. Barbara Roque is a an ophthalmologist whose practice includes general ophthalmology (which includes cataract surgery) with subspecialty work in pediatric ophthalmology, strabismus and ophthalmic genetics.
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