Renal coloboma syndrome

Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys.

Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision.

Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.

Other names

Coloboma of optic nerve with renal disease; Coloboma-ureteral-renal syndrome; ONCR; Optic coloboma, vesicoureteral reflux, and renal anomalies; Optic nerve coloboma renal syndrome; Papillorenal syndrome; RCS; Renal-coloboma syndrome

Inheritance pattern

Autosomal dominant

Related genes

PAX2

Source: MedlinePlus Genetics, U.S. National Library of Medicine.