Papillorenal syndrome is a very rare developmental disorder characterised by eye anomalies and renal hypoplasia/insufficiency. It follows an autosomal dominant inheritance pattern and exibits a highly variable phenotype even within members of affected families.
Papillorenal syndrome is caused by mutations in the PAX2 gene. PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd (paired). The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1. Alternative splicing of this gene results in multiple transcript variants.