Dr. Shreya Shah, S12819, Dr. Mehul Ashvin Kumar Shah, Dr. Jayesh D. Modhwadia, Dr.Pritesh Taori
PURPOSE: To report a case series of a family having BPES and monocular elevation deficiency syndromes with unaffected mother.
METHOD:We report a family in which the 4 year old daughter, 5 year old son and the 30 year old father all had BPES and monocular elevation deficiency syndromes, the mother was unaffected indicating the autosomal dominant nature of inheritance pattern.
RESULTS: Both the children underwent ptosis correction and uniocular squint surgery for monocular elevation deficiency.
CONCLUSION:Monocular elevation deficiency syndrome is a rare congenital condition which can present with myogenic ptosis. Blepharophimosis is a more severe form of myogenic ptosis. BPES syndrome includes blepharophimosis, ptosis and epicanthus inversus with or without premature ovarian failure depending on inheritance pattern.