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 the eyes. Affected kidneys are usually small or underdeveloped and may progress to ESRD when the kidneys are no longer able to filter the fluids. One or both the kidneys can be involved In the eyes, various malformations noted are malformed optic nerve and occasionally 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.