Papillorenal syndrome epidemiology and demographics

Prevalence and prevalence at birth are not known. 177 mutation-positive cases (90 different families) have been reported. The number of mutation-negative individuals with clinical findings of Renal coloboma syndrome (RCS) is not known. There is no ethnic predilection.

Mutations in thePAX2gene (10q24) have been identified in about 1/2 of patients with renal hypodysplasia and abnormalities of the optic nerve. PAX2 mutations have been identified in about 9% of unselected individuals presenting with renal hypoplasia. The genetic basis of the remaining cases is not known.

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