Association and chance occurrence of aniridia and retinoblastoma.

To, K W; Mukai, S; Friedman, A H · Am J Ophthalmol · 1994

case_report · Level V

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Abstract

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. 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.

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