Upper Eyelid Coloboma Associated with Congenital Heart Disease-A Rare Case Report

Purpose: To report a case of upper eyelid coloboma associated with congenital heart disease. Method: Case report. Result: We describe one rare case with upper eyelid coloboma associated with congenital heart disease, skeletal deformity and ear tag. The patient underwent rotational switch flap under general anesthesia at 3-month-old. The flap was divided two weeks later and eyelid reconstruction was done. Good result was noticed after 6- year follow-up. Conclusion: Coloboma is defined as a defect, especially a congenital fissure, of any part of the eye. Congenital eyelid coloboma is a defect of the skin, muscle, tarsal plate and conjunctiva of the lid margin. Colobomas of the eyelids are considered as forms of facial clefting. It occurs in isolation or occurs with orbital deformity or epibulbar tumor while ocular coloboma is often associated with heart malformation, genital hypoplasia, ear anomalies and hearing loss. Eyelid coloboma could involve both upper and lower eyelids. Lower eyelid coloboma often occurs with congenital heart disease, systemic abnormalities, while upper eyelid coloboma is free of other disorders. We report a case of upper eyelid coloboma with congenital heart disease, constricted ear, skin tag, hemifacial defect, and discuss the surgical strategy of colobomas.