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Association and chance occurrence of aniridia and retinoblastoma
K W To1, S Mukai, A H Friedman
1Department of Ophthalmology, Rhode Island Hospital, Providence 02903.
American Journal of Ophthalmology
|December 15, 1994
Abstract
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.