Papillorenal syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]
Overview
Papillorenal syndrome is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.[1]
The other name for papillorenal syndrome is Renal coloboma syndrome. It is a rare disorder that affects the development of kidneys and eyes. Affected kidneys are usually small or underdeveloped and may progress to ESRD. In the eyes noted are malformed optic nerve and sometimes a hole in the retina known as coloboma. Some of the affected individuals may experience vision loss. Hence the name is given as renal coloboma syndrome. Other less common symptoms associated with the disease include vesicoureteral reflux, loose abnormal joints, numerous kidney cysts, and minimal hearing loss.
Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end-stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose joints, and mild hearing loss.