Walsh & Hoyt: Papillorenal Syndrome (the "Uncoloboma")

The papillorenal syndrome, also previously known as renal-coloboma syndrome, was first described by Rieger in 1977. This syndrome was initially considered to be a rare autosomal-dominant disorder consisting of bilateral optic disc anomalies associated with hypoplastic kidneys. Associated retinal detachments were described, as was eventual renal failure. In 1995, Sanyanusin et al. discovered mutations in the developmental gene PAX2, the human homologue of the mouse gene Pax2 in two affected families. Schimmenti et al. identified three additional families with PAX2 mutations with similar ophthalmologic features and a wider spectrum of renal abnormalities, which may include hypoplasia, variable proteinuria, vesiculoureteral reflux, recurrent pyelonephritis, microhematuria, echogenicity on ultrasound, or high resistance to blood flow on Doppler ultrasound.