Manitoba Oculo-tricho-anal Syndrome: Complex Surgical Correction of an Extensive Upper Lid Coloboma with Congenital Symblepharon

Abstract

Manitoba Oculo-tricho-anal Syndrome (MOTA) is a rare autosomal recessive disorder characterized by eyelid coloboma, cryptophthalmos, anophthalmia or microphthalmia, abnormal hair growth from scalp to eyebrow, bifid or broad nasal tip, and gastrointestinal anomalies including omphalocele and anorectal malformations.[1, 2] We describe a multi-stage surgical approach to repair a right upper lid coloboma with an extensive congenital superomedial symblepharon obscuring the pupil in the context of MOTA. Surgical steps included reconstitution of the eyelid’s anatomical landmarks with dissection of the symblepharon invading the opacified cornea, freeing the pupillary axis, creation of a superior fornix, advancement of myocutaneous/periosteal flaps, and insertion of an implant to recreate the absent eyelid. This resulted in significant improvement of ocular surface protection, quality of life, and allowed for amblyopia treatment.