PAX2 and hyperuricemia: RCS has been reported to be associated with hyperuricemia and gout in two unrelated families (Deng et al., 2019; Megaw et al., 2013) and the finding of the PAX2 Gly76Arg mutation in the family with FJHN (Figure 1a-c) prompted an ophthalmological examination of the proband (II.1).