AUTOSOMAL-DOMINANT OPTIC-NERVE COLOBOMAS, VESICOURETERAL REFLUX, AND RENAL ANOMALIES

We describe a father and 3 sons with optic nerve colobomas, vesicouret eral reflux, and renal anomalies. The youngest son had congenital rena l failure and ultimately underwent renal transplantation, The father a nd one son had high frequency hearing loss. There were no other affect ed relatives, We conclude that the association of optic nerve coloboma s, renal anomalies, and vesicoureteral reflux comprises a unique autos omal dominant syndrome, Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX 2 gene. (C) 1995 Wiley-Liss, Inc.