Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Child With Branchial Cleft Cysts

Abstract

An otherwise healthy 15-month-old boy presented with benign branchial cleft cysts and combined hamartoma of the retina and retinal pigment epithelium. This association was previously only reported in a patient with branchio-oculo-facial syndrome. Although uncommon, this could represent multifocal sites of fetus craniofacial malformation.