PAX2 and renal coloboma syndrome: Pathogenic variants in the PAX2 gene have been associated with a spectrum of eye and kidney disorders, ranging from papillorenal syndrome (known as renal coloboma syndrome; OMIM: 120330) to isolated nephrosis without kidney morphological anomalies (focal segmental glomerulosclerosis; OMIM: 616002), inherited in an autosomal dominant manner.