Marcus Gunn Jaw-winking Syndrome

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Background

In 1883, Marcus Gunn described a 15-year-old girl with a peculiar type of congenital ptosis that included an associated winking motion of the affected eyelid on the movement of the jaw.[1] This synkinetic jaw-winking phenomenon now bears his name. See the image below.


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Congenital left upper eyelid ptosis.

Patients with Marcus Gunn jaw-winking syndrome have variable degrees of blepharoptosis in the resting, primary position. Although Marcus Gunn jaw-winking syndrome is usually unilateral, it can present bilaterally in rare cases.

The wink reflex consists of a momentary upper eyelid retraction or elevation to an equal or higher level than the normal fellow eyelid upon stimulation of the ipsilateral pterygoid muscle. This response is followed by a rapid return to a lower position. The amplitude of the wink tends to be worse in downgaze. This rapid, abnormal motion of the eyelid can be the most disturbing aspect of the jaw-winking syndrome.

The wink phenomenon may be elicited by opening the mouth, thrusting the jaw to the contralateral side, jaw protrusion, chewing, smiling, or sucking.[2, 3, 4, 5] This wink phenomenon is often discovered early, as the infant is bottle-feeding or breastfeeding. See the image below.


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Marcus Gunn jaw-winking with left upper eyelid retraction on opening of the mouth.

Jaw-winking ptosis is almost always sporadic, but familial cases with an irregular autosomal dominant inheritance pattern have been reported.[6]

Pathophysiology

Marcus Gunn jaw-winking is thought to be a form of synkinetic ptosis. An aberrant connection appears to exist between the motor branches of the trigeminal nerve (CN V3) innervating the external pterygoid muscle and the fibers of the superior division of the oculomotor nerve (CN III) that innervate the levator superioris muscle of the upper eyelid.[7, 8, 9, 10]

Electromyographic studies demonstrate this synkinetic innervation by showing simultaneous contraction of the external pterygoid and levator muscle. In rare cases, synkinesis may be present between the internal pterygoid and levator muscles. In these cases, the eyelid elevates on closing the mouth and clenching the teeth.[11]

A few authors have speculated that the jaw-winking is not due to a new aberrant pathway, but rather the disinhibition of preexisting phylogenetically more primitive mechanisms.[12] This is thought to explain why individuals who are not affected will often open their mouths while attempting to widely open their eyes to place eye drops or to apply makeup.

Since jaw-winking ptosis is believed by most to be due to abnormal innervation of the levator muscle and not secondary to myopathic changes, it is not surprising that most histopathologic studies have revealed normal striated muscle.

One study found variable degrees of fibrosis within the affected levator muscle and to a lesser degree in the muscle of the normal, nonptotic eyelid.[13]

Epidemiology

Frequency

United States

Approximately 50% of blepharoptosis cases are congenital. Incidence of Marcus Gunn jaw-winking syndrome among this population is approximately 5%.[2]

Mortality/Morbidity

Race

No known racial predilection exists.

Sex

Early reports showed jaw-winking ptosis to be more prevalent in females than in males; however, larger case series have shown an equal prevalence among males and females.[2, 14]

Age

History

Physical

Causes

See Pathophysiology.

Laboratory Studies

Other Tests

Histologic Findings

Light microscopy of surgical specimens usually reveals normal striated muscle. Fibrosis within the muscle has been reported.[13]

Medical Care

Surgical Care

As with any patient who requires eyelid surgery, first address associated strabismus.

Consultations

Further Inpatient Care

Further Outpatient Care

Inpatient & Outpatient Medications

Complications

Prognosis

Author

Sean M Blaydon, MD, FACS, Texas Oculoplastic Consultants, Austin, Texas

Disclosure: Nothing to disclose.

Specialty Editors

Michael J Bartiss, OD, MD, Medical Director, Ophthalmology, Family Eye Care of the Carolinas

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

J James Rowsey, MD, Former Director of Corneal Services, St Luke's Cataract and Laser Institute

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Disclosure: Nothing to disclose.

References

  1. Gunn RM. Congenital ptosis with peculiar associated movements of the affected lid. Trans Ophthal Soc UK. 1883;3:283-7.
  2. Pratt SG, Beyer CK, Johnson CC. The Marcus Gunn phenomenon. A review of 71 cases. Ophthalmology. Jan 1984;91(1):27-30. [View Abstract]
  3. Bradley WG, Toone KB. Synkinetic movements of the eyelid: a case with some unusual mechanisms of paradoxical lid retraction. J Neurol Neurosurg Psychiatry. Dec 1967;30(6):578-9. [View Abstract]
  4. Kirkham TH. Paradoxical elevation of eyelid on smiling. Am J Ophthalmol. Jul 30 1971;72(1):207-8. [View Abstract]
  5. Parry R. An unusual case of the Marcus Gunn syndrome. Trans Opthal Soc U K. 1957;77:181-5. [View Abstract]
  6. Kirkham TH. Familial Marcus Gunn phenomenon. Br J Ophthalmol. Apr 1969;53(4):282-3. [View Abstract]
  7. Beard C. Ptosis. 3rd ed. St. Louis: CV Mosby; 1981:46-9.
  8. Duke Elder S. Normal and abnormal development; congenital deformities. In: System of Ophthalmology. Vol 3, pt 2. St. Louis: CV Mosby; 1963:900-5.
  9. Pandey M, Baduni N, Jain A, Sanwal MK, Vajifdar H. Abnormal oculocardiac reflex in two patients with Marcus Gunn syndrome. J Anaesthesiol Clin Pharmacol. Jul 2011;27(3):398-9. [View Abstract]
  10. Conte A, Brancati F, Garaci F, Toschi N, Bologna M, Fabbrini G, et al. Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. PLoS One. 2012;7(12):e51749. [View Abstract]
  11. Hepler RS, Hoyt WF, Loeffler JD. Paradoxical synkinetic levator inhibition and excitation. An electromyographic study of unilateral oculopalpebral and bilateral mandibulopalpebral (Marcus Gunn) synkineses in a 74-year-old man. Arch Neurol. Apr 1968;18(4):416-24. [View Abstract]
  12. Wartenberg R. Winking-jaw phenomenon. Arch Neurol Psychiatry. Jun 1948;59(6):734-53. [View Abstract]
  13. Lyness RW, Collin JR, Alexander RA, et al. Histological appearances of the levator palpebrae superioris muscle in the Marcus Gunn phenomenon. Br J Ophthalmol. Feb 1988;72(2):104-9. [View Abstract]
  14. Khwarg SI, Tarbet KJ, Dortzbach RK, et al. Management of moderate-to-severe Marcus-Gunn jaw-winking ptosis. Ophthalmology. Jun 1999;106(6):1191-6. [View Abstract]
  15. Doucet TW, Crawford JS. The quantification, natural course, and surgical results in 57 eyes with Marcus Gunn (jaw-winking) syndrome. Am J Ophthalmol. Nov 1981;92(5):702-7. [View Abstract]
  16. Bowyer JD, Sullivan TJ. Management of Marcus Gunn jaw winking synkinesis. Ophthal Plast Reconstr Surg. Mar 2004;20(2):92-8. [View Abstract]
  17. Wong JF, Theriault JF, Bouzouaya C, et al. Marcus Gunn jaw-winking phenomenon: a new supplemental test in the preoperative evaluation. Ophthal Plast Reconstr Surg. Nov 2001;17(6):412-8. [View Abstract]
  18. Putterman AM. Jaw-winking blepharoptosis treated by the Fasanella-Servat procedure. Am J Ophthalmol. Jun 1973;75(6):1016-22. [View Abstract]
  19. Bullock JD. Marcus-Gunn jaw-winking ptosis: classification and surgical management. J Pediatr Ophthalmol Strabismus. Nov-Dec 1980;17(6):375-9. [View Abstract]
  20. Epstein GA, Putterman AM. Super-maximum levator resection for severe unilateral congenital blepharoptosis. Ophthalmic Surg. Dec 1984;15(12):971-9. [View Abstract]
  21. Dillman DB, Anderson RL. Levator myectomy in synkinetic ptosis. Arch Ophthalmol. Mar 1984;102(3):422-3. [View Abstract]
  22. Dryden RM, Fleming JC, Quickert MH. Levator transposition and frontalis sling procedure in severe unilateral ptosis and the paradoxically innervated levator. Arch Ophthalmol. Mar 1982;100(3):462-4. [View Abstract]
  23. Kersten RC, Bernardini FP, Khouri L, et al. Unilateral frontalis sling for the surgical correction of unilateral poor-function ptosis. Ophthal Plast Reconstr Surg. Nov 2005;21(6):412-6; discussion 416-7. [View Abstract]
  24. Islam ZU, Rehman HU, Khan MD. Frontalis muscle flap advancement for jaw-winking ptosis. Ophthal Plast Reconstr Surg. Sep 2002;18(5):365-9. [View Abstract]
  25. Lemagne JM. Transposition of the levator muscle and its reinnervation. Eye. 1988;2 (Pt 2):189-92. [View Abstract]
  26. Neuhaus RW. Eyelid suspension with a transposed levator palpebrae superioris muscle. Am J Ophthalmol. Aug 15 1985;100(2):308-11. [View Abstract]
  27. Tian N, Zheng YX, Zhou SY, Liu JL, Huang DP, Zhao HY. Clinical characteristics of moderate and severe Marcus-Gunn jaw-winking synkinesis and its surgical treatment. Zhonghua Yan Ke Za Zhi. Dec 2007;43(12):1069-72. [View Abstract]

Congenital left upper eyelid ptosis.

Marcus Gunn jaw-winking with left upper eyelid retraction on opening of the mouth.

Congenital left upper eyelid ptosis.

Marcus Gunn jaw-winking with left upper eyelid retraction on opening of the mouth.