Goldenhar syndrome associated with lacrimal system agenesis: A case report

Purpose: To report a case of lacrimal system agenesis in a patient with Goldenhar syndrome. Observations: A one-month-old female preterm twin with Goldenhar syndrome presented with left upper eyelid coloboma, left central corneal ulcer and inferotemporal epibulbar dermoid. The corneal ulcer was treated and healed to a mild stromal scar. Examination under anesthesia prior to surgery revealed agenesis of the upper and lower eyelids canaliculi. Surgery was performed to correct left upper eyelid coloboma. At a second stage, the epibulbar dermoid was excised and ocular surface was repaired with amniotic membrane graft. Conclusion and importance: Goldenhar syndrome is a rare congenital anomaly arising from the abnormal development of the first and second branchial arches. Anomalies of lacrimal drainage system are uncommon in Goldenhar including nasolacrimal duct obstruction and common canalicular obstruction. Agenesis of the lacrimal system has not been described in cases of Goldenhar syndrome. This case represents a unique and uncommonly seen feature.