Marcus Gunn described a 9-year-old girl with a peculiar type of congenital unilateral

ptosis that included an associated winking motion of the affected eyelid on the movement of
the jaw in 1883 [1]. Patients with Marcus Gunn jaw-winking syndrome (MGJWS) have
variable degrees of blepharoptosis in the resting, primary position. Although MGJWS is
usually unilateral, it can present bilaterally in rare cases [2]. 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
MGJWS. The wink phenomenon may be elicited by opening the mouth, thrusting the jaw to
the contralateral side, jaw protrusion, chewing, smiling, or sucking [1]. Jaw-winking ptosis is
almost always sporadic, but familial cases with an irregular autosomal dominant inheritance
pattern have been reported [1,2]. Here we describe a patient who presented with ptosis and
were diagnosed with MGJWS.
Case: A 9-year-old female patient reported to the Department of Ophthalmology for
the treatment of her pitosis. Growth and development were apparently normal. Medical
history did not reveal any systemic disorder. No other family member was reported to have a
similar pitosis. Extraoral examination revealed a hyper leptoprosopic facial form with mild
facial asymmetry, increased lower anterior face height, incompetent lips with excessive
incisor display, convex profile, and steep mandibular plane. In rest position, there was
blepharoptosis of the left upper eyelid [Figure 1]. However, when the mouth was opened, the
left upper eyelid retracted suddenly, revealing sclera above the limbus [Figure 2]. The same
phenomenon occurred when the mandible was moved to the contralateral side [Figure 3]. No
retraction of the left upper eyelid was observed when the mandible was moved to the
ipsilateral side [Figure 4]. The affected eyelid remained elevated while the mouth was held
open or mandible moved to the opposite side and returned to its normal position only when
the mouth was closed. There was a full range of conjugate eye movements and visual acuity
was 6/6 in both eyes. Brain MRI and brain MR angiography findings were normal. Her
mother reported that the condition had been present since birth and there was neither
improvement nor worsening with age.
Discussion: Marcus Gunn jaw-winking syndrome is a rare problem varying in severity
from a mild disorder to a significant cosmetic disability. One of the characteristic signs of this
phenomenon is blepharoptosis, which is present in the above case. There are reports in the

literature indicating a tendency for improvement of the disorder with age. However, the
patient described here did not report any such improvement. Although most cases of MGJWS
are said to be congenital, acquired forms of this condition are also known to exist. MGP is
said to have developed after eye surgery, syphilis, trauma, pontine tumors, etc.(3,4). The
congenital forms of this condition will usually be present throughout life unless corrective
surgery is done. Various theories have been proposed regarding the etiology of this disorder.
Dual innervation of the levator palpebrae superioris muscle from both the occulomotor
nucleus and external pterygoid portion of the trigeminal nucleus is one such theory. Normally,
levator muscle is innervated by the occulomotor nucleus. The second theory on innervation
states that there is a reflex arc arising from the motor division of the trigeminal nerve to the
gasserian ganglion, propagated along intraneuronal connections to the occulomotor nucleus
and finally to levator muscle (5). This theory is based on embryologic evidence as the motor
nucleus of the two cranial nerves appear at the same time and are located in close proximity
(6). Kinematic and MRI findings point to a brainstem structural abnormality in familial
MGJWS patients thus supporting the hypothesis of a neural misdirection of trigeminal motor
axons to the elevator palpebralis muscle (7). The third phylogenetic theory of atavism relates
this phenomenon to lower animals and fish, where retraction of the upper eyelid is associated
with opening of the mouth. In general, these related movements become inhibited through an
evolutionary process (6). Systemic anomalies in association with MGJWS are rare. Many
oral-ocular aberrations have been reported in the literature. One such is synchronous closure
of the eyelid with opening of the patient's mouth. This is opposite to that described in the
MGP and is known as "inverted Marcus Gunn" or "Marin Amat" syndrome. Pavoneet al., in
1999 have reported the case of a 10-year-old boy with this phenomenon (8). Another oral
ocular aberration is the corneomandibular reflex or winking jaw phenomenon, where forceful
pressure on the cornea results in sudden movement of the mandible to the contralateral
side "eye bobbing" is yet another reported disorder characterized by elevation and depression
of the eye globes coinciding with mandibular movements (9, 10). Simultaneous occurrence of
MGJWS in one eye and inverted MGJWS in the other have also been reported ("see-saw
Marcus Gunn syndrome") (11). Family history of myasthenia gravis with ptosis, congenital
nasal sinus tract, cleft lip and palate, congenital ptosis, and convergent strabismus in a case of
MGP has been reported earlier (6). This may be a variation of the MGJWS trait. Disabling of
the involved levator muscle and unilateral or bilateral frontalis suspension are stated to be
effective in the treatment of MGP. Eyelash ptosis and loss of eyelid crease were the most
commonly reported complications, each occurring in 10% of the patients (12).

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