Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: Further ophthalmologic delineation of the renal-coloboma syndrome

Lisa A. Schimmenti, Glenda S. Manligas, Paul A. Sieving

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)191-202
Number of pages12
JournalOphthalmic Genetics
Volume24
Issue number4
DOIs
StatePublished - Dec 2003
Externally publishedYes

Keywords

  • Coloboma
  • Congenital eye malformations
  • Optic nerve dysplasia
  • PAX2
  • Renal-coloboma syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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