Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date.
Bibliographical noteFunding Information:
This work was supported through the UCLA Academic Senate, the UCLA Child Health Research Center Award (NICHD) (LAS), Research to Prevent Blindness (partial support, LAS), and the Foundation Fighting Blindness (Hunt Valley, MD) (PAS). We are grateful for the generosity of Leslie and Susan Gonda. We thank Jennifer Kemp and Cara Coates for assistance in clinical data handling and family contacts.
- Congenital eye malformations
- Optic nerve dysplasia
- Renal-coloboma syndrome