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Papillorenal syndrome is an autosomal-dominant syndrome involving optic nerve abnormalities and hypodysplastic kidneys (OMIM 120330).1 Precise incidence is unknown due to infrequent diagnosis. About 50% of patients have detectable mutations in PAX2,2 a gene encoding a transcription factor that has roles in urogenital and eye development.3 It is also expressed in the ear, central nervous system and pancreas.4 We present a familial case series of papillorenal syndrome and PAX2 mutation with gout, diabetes, unusual hepatobiliary complications and, in one instance, cryptorchidism.
Born with poor vision and right-beating nystagmus, our patient developed high myopia as an infant. Examination revealed excavated, dysplastic optic discs lacking central retinal vessels, with compensatory cilioretinal vessels at the rim (figure 1) At the age of 12, he was diagnosed with hypertension; imaging revealed hypoplastic kidneys. A diagnosis of papillorenal syndrome was made. Subsequent analysis of PAX2 showed a heterozygous mutation in exon 5 (c.567_568dup(p.Ile190ArgfsX85); figure 2). He developed a left inferior retinal detachment (RD) at the age of …