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Am J Med Genet. 1995 Nov 6;59(2):204-8.

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Author information

1
Department of Pediatrics, University of Minnesota School of Medicine, Minneapolis, USA.

Abstract

We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene.

PMID:
8588587
DOI:
10.1002/ajmg.1320590217
[Indexed for MEDLINE]

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