Association and chance occurrence of aniridia and retinoblastoma.

Journal Article (Journal Article)

PURPOSE/METHODS: A 9-month-old infant had inherited aniridia and unilateral retinoblastoma. Family history disclosed three generations of aniridia; yet there were no instances of retinoblastoma. The coincidental occurrence of retinoblastoma and aniridia is rare. RESULTS/CONCLUSIONS: With DNA probes from within the retinoblastoma gene, we were able to determine that a retinoblastoma-predisposing mutation was not inherited with aniridia in this family. The occurrence of these two diseases in the same individual therefore represents a chance event.

Full Text

Duke Authors

Cited Authors

  • To, KW; Mukai, S; Friedman, AH

Published Date

  • December 15, 1994

Published In

Volume / Issue

  • 118 / 6

Start / End Page

  • 820 - 822

PubMed ID

  • 7977618

International Standard Serial Number (ISSN)

  • 0002-9394

Digital Object Identifier (DOI)

  • 10.1016/s0002-9394(14)72571-1


  • eng

Conference Location

  • United States