Case report: We describe a woman with optic disc pit and bilateral renal hypoplasia as a papillorenal syndrome. DNA analysis for PAX2 mutations revealed a heterozygous mutation (nucleotide 619 in exon 9). A first uncle and a cousin had the same PAX2 mutation.
Discussion: The association of optic nerve colobomas and renal anomalies comprises a autosomal dominant syndrome for mutations in the PAX2 gene. Ophthalmic and renal diseases are highly variable; the ophthalmologist must check for a renal problem when a coloboma is detected.