Papillorenal syndrome, also called Renal-coloboma syndrome, is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.[1]
Pathophysiology
Papillorenal syndrome has an autosomal dominant pattern of inheritance.
The syndrome results from mutation of a copy of the PAX2 gene,[1] a gene which is important in the development of both the eye and the kidney.
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