A rare case report: Renal coloboma syndrome

Abstract

Renal coloboma syndrome (RCS), also called papillorenal syndrome, is a rare syndrome characterized by renal abnormalities and optic nerve dysplasia. We present a case of a neonate with renal and eye abnormalities. Along with the known diagnosis of multicystic dysplastic kidney, the neonate was diagnosed with coloboma of the right eye, making a probable diagnosis of RCS. Retinal detachment and decreased visual acuity are implications of the ocular malformations. Hypertension, proteinuria, and renal insufficiency, which frequently lead to end-stage kidney disease, are serious consequences of renal dysplasia.