Marcus Gunn Jaw Winking and Monocular Elevation Deficiency; Same Disease and Different Spectrum: A Case Report and Review of Literature

Background and Objective: Marcus Gunn Jaw Winking (MGJW) Synkinesis is characterized by droopy eyelid retraction with jaw movement. MGJW is usually seen alone, although familial cases are documented one of the problems that may occur with MGJW is Monocular elevation deficiency (MED). The concomitant MGJW, congenital ptosis, and MED represent a congenital misdirection syndrome, Oculomotor nerve is involved.Patient Report : In this report, we present a 13-year-old girl with MGJW with a severe ptosis and concomitant MED in the left eye. Her Aunt, a 33-year-old female patient with MGJW syndrome, with a milder degree of her niece, she had not MED. It could be noted that our patient has a more severe range of MGJW syndrome, with MED being also present. In our case ptosis was present and associated with MED there was need for surgical intervention. The patient and his family was counselled for surgical intervention as the child is at high-risk of developing poor psychosocial outcomes as observed in some other cases.A brief review was also performed about this case too.Conclusions: Because of the fact that there is a high probability of the same inheritance between the two patients and both of them are due to a gene defect, we can conclude that MED and MGJW are two spectrum of one disease. Because in the girl with more severe ptosis, MED appears, while in her aunt with less ptosis and milder MGJW, MED is not seen

Keywords:

Marcus Gunn Jaw Winking Synkinesis , MGJWS , Monocular Elevation Deficiency , MED , Blepharoptosis