Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations


Corresponding author: Dr Michael R Eccles, Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, 676 Cumberland Street, P.O. Box 56, Dunedin, New Zealand. Tel: +64 3 4797878; fax: +64 3 4797738; e-mail:


Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome (#120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene. Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. We review here the clinical features of patients with renal-coloboma syndrome and PAX2 mutation. We also review the PAX2 mutations that have been reported to date, and discuss the possible effect of PAX2 mutations on normal development.