Renal coloboma syndrome (also known as papillorenal syndrome) is a rare condition that primarily affects kidney and eye development.
Affected individuals typically have hypoplastic kidneys, which can lead to end-stage renal disease. Approximately 10% of children with hypodysplastic kidneys have the mutation that leads to renal coloboma syndrome.
Less frequently, patients with renal coloboma syndrome can present with vesicoureteral reflux, multiple kidney cysts, loose joints, and mild hearing loss.
Pathology
Approximately half of the people affected by renal coloboma syndrome have PAX2 gene mutation.
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