Paired box 2 gene (PAX2) has a crucial role in kidney development and encodes for a transcription factor in the kidney and ureter, as well as in the eyes, ears, and central nervous system. Pathogenic variants in PAX2 causes renal and ophthalmological anomalies, such as renal coloboma syndrome (OMIM#120330) with or without vesicoureteral reflux (VUR). Renal coloboma syndrome is also referred to as papillorenal syndrome. However, PAX2-related disorders have clinical variability, showing non-renal and non-ophthalmological manifestation as well. This talk presents current understandings of PAX2-related disorders with the focus on nephropathy.