|Year : 2019 | Volume
| Issue : 1 | Page : 37-39
Marcus gunn jaw-winking syndrome associated with morning glory disc anomaly
Abdulaziz A Alshamrani1, Fahad A Alghulaydhawi2, Mohammed Al Shamrani1
1 King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
2 King Khaled Eye Specialist Hospital, Riyadh; Department of Ophthalmology, College of Medicine, Prince Sattam bin Abdulaziz University, Al-Kharj, Saudi Arabia
|Date of Web Publication||24-Apr-2019|
Dr. Mohammed Al Shamrani
Consultant, Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD.
Keywords: Blepharoptosis, jaw-winking, Marcus Gunn phenomenon, morning glory disc anomaly, morning glory syndrome
|How to cite this article:|
Alshamrani AA, Alghulaydhawi FA, Al Shamrani M. Marcus gunn jaw-winking syndrome associated with morning glory disc anomaly. Middle East Afr J Ophthalmol 2019;26:37-9
|How to cite this URL:|
Alshamrani AA, Alghulaydhawi FA, Al Shamrani M. Marcus gunn jaw-winking syndrome associated with morning glory disc anomaly. Middle East Afr J Ophthalmol [serial online] 2019 [cited 2019 Jul 23];26:37-9. Available from: http://www.meajo.org/text.asp?2019/26/1/37/256970
| Introduction|| |
The jaw-winking phenomenon was initially described by Marcus Gunn in 1883. This form of congenital blepharoptosis results from an anomalous connection between the motor branches of the fifth cranial nerve and the ipsilateral superior division of the third cranial nerve. The “jaw-winking” synkinesis involves the external pterygoid muscle, which moves the jaw toward the opposite side, and the ipsilateral levator palpebrae superioris muscle. Marcus Gunn jaw-winking syndrome (MGJWS) is recognized as a form of congenital cranial dysinnervation disorders (CCDDs),, a spectrum of nonprogressive conditions that result from developmental deficits of one or more cranial nerves or nuclei with primary or secondary muscle dysinnervation.
Morning glory disc anomaly (MGDA), first described by Kindler in 1970, is a congenital optic disc anomaly of unknown etiology characterized by the enlargement and conical excavation of the optic disc, central tuft of glial tissue, peripapillary pigmentation and subretinal fibrosis, and spoke-like pattern of retinal vessels emerging from the disc margin.
In the current study, we report a novel case of MGJWS associated with MGDA in the same eye.
| Case Report|| |
A 7-year-old boy with MGJWS in the left eye was examined at King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Physical examination of the patient and evaluation of medical history, basic laboratory tests (including complete blood count, renal function test, liver function test) revealed no abnormalities. Magnetic resonance imaging of the brain and orbits was performed, and the results were normal.
Further, external examination of the eyes revealed a severely ptotic left upper eyelid, covering part of the visual axis, which elevated on opening the mouth and moving the jaw to the opposite (right) side [Figure 1]. The excursion distance of the ptotic left upper eyelid with the synkinetic jaw movements was 6 mm (mm). The best-corrected visual acuity was 20/25 in the right eye and was limited to counting fingers (CF) in the left eye. Further, the patient fixed his vision with only the right eye, and cycloplegic refraction revealed +4.00 sphere in the right eye and −2.00 −1.50 ×085 in the left eye. Extraocular motility was normal in the right eye and the limitation of supraduction in all directions of gaze was noted in the left eye. The Krimsky test revealed a left esotropia of 50 prism diopters (PD) and a left hypotropia of 45 PD. Anterior segment examination was normal in both eyes. Dilated fundus examination showed a flat retina with healthy macula and optic disc in the right eye and MGDA in the left eye with the typical enlargement and central tuft of glial tissue, peripapillary pigmentation, and straightened vessels emerging from the peripheral nerve in a radial pattern [Figure 2].
|Figure 1: External photos of the patient. (a) Ptosis of the left upper eyelid. (b) Elevation of the ptotic eyelid with mouth opening, esotropia and hypotropia in the left eye|
Click here to view
|Figure 2: Fundus photos of both eyes. (a) Healthy retina and optic disc in the right eye. (b) Morning glory disc anomaly in the left eye|
Click here to view
Part-time occlusion was tried since he was 4 years old and for 2 continuous years, but the vision in the left eye did not improve. He also received two botulinum toxin (BOTOX®) injections, into both medial recti, at the age of 3 and 5 years, but no improvement was noted in the esotropia.
| Discussion|| |
MGJWS represents approximately 8.5% of all congenital blepharoptosis cases and is usually unilateral and isolated. Bilateral cases, and ocular and systemic associations have also been reported in the literature. The jaw-winking phenomenon can occur in the absence of blepharoptosis in approximately 5.6% of MGJWS cases. The most common ocular associations are amblyopia (59%), strabismus (48%), including monocular elevation deficiency and superior rectus muscle palsy, and anisometropia (25%). MGJWS was also linked to Duane retraction syndrome (DRS) and other forms of CCDDs., Systemic anomalies such as CHARGE syndrome have been observed with MGJWS.
The prevalence of MGDA is 2.6/100,000, and children with MGDA often present with strabismus and leukocoria. Vision is usually poor ranging from 20/200 to CF; however, cases with 20/20 vision and no light perception have been reported., MGDA is usually unilateral and isolated, but bilateral cases and ocular and systemic associations have been reported., Approximately one-third of MGDA cases are associated with the nonrhegmatogenous retinal detachment that usually occurs during the first and the second decades of life and coexistence of MGDA with DRS has been mentioned in a few reports., Most systemic associations of MGDA are related to craniofacial and intracranial pathologies such as basal encephalocele, hypoplasia of the cerebral arteries, PHACE syndrome, hypertelorism, agenesis of the corpus callosum, and neurofibromatosis type 2.,, It is critical to differentiate MGDA from optic nerve coloboma because these two entities have different systemic associations.
The patient in our report had anisometropia, esotropia, and monocular elevation deficiency in the left eye which is known to be associated with MGJWS, a form of CCDDs; however, no previous report has shown an association between MGJWS and MGDA as observed in our patient. Both MGJWS and MGDA were reported in the literature to be associated with DRS, a form of CCDDs.,, Observations from the current report add to the current knowledge and may provide insights into understanding the pathogenesis of MGJWS and MGDA for future studies.
The legal guardian (parents) were orally consented to publication of the report.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Gunn RM. Congenital ptosis with peculiar associated movements of the affected lid. Trans Ophthal Soc UK 1883;3:283-7.
Demirci H, Frueh BR, Nelson CC. Marcus Gunn jaw-winking synkinesis: Clinical features and management. Ophthalmology 2010;117:1447-52.
Traboulsi EI. Congenital cranial dysinnervation disorders and more. J AAPOS 2007;11:215-7.
Assaf AA. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). Eye (Lond) 2011;25:1251-61.
Kindler P. Morning glory syndrome: Unusual congenital optic disk anomaly. Am J Ophthalmol 1970;69:376-84.
Lee BJ, Traboulsi EI. Update on the morning glory disc anomaly. Ophthalmic Genet 2008;29:47-52.
Pearce FC, McNab AA, Hardy TG. Marcus Gunn jaw-winking syndrome: A Comprehensive review and report of four novel cases. Ophthalmic Plast Reconstr Surg 2017;33:325-8.
Shah AD, Kumar AB, Kothari K. Bilateral Marcus Gunn jaw winking synkinesis with monocular elevation deficiency: A case report and literature review. Int Ophthalmol 2012;32:199-201.
Weaver RG Jr., Seaton AD, Jewett T. Bilateral Marcus Gunn (jaw-winking) phenomenon occurring with CHARGE association. J Pediatr Ophthalmol Strabismus 1997;34:308-9.
Pratt SG, Beyer CK, Johnson CC. The Marcus Gunn phenomenon. A review of 71 cases. Ophthalmology 1984;91:27-30.
Ceynowa DJ, Wickström R, Olsson M, Ek U, Eriksson U, Wiberg MK, et al.
Morning glory disc anomaly in childhood – A population-based study. Acta Ophthalmol 2015;93:626-34.
Brodsky MC. Congenital Optic Disc Anomalies in Pediatric Neuro-Ophthalmology. New York: Springer; 2010.
[Figure 1], [Figure 2]