Association and chance occurrence of aniridia and retinoblastoma.
OBJECTIVE
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.


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.
Department of Ophthalmology, Rhode Island Hospital, Providence 02903.
K W
KW
To
S
S
Mukai
A H
AH
Friedman
D015783:Aniridia / Q000150:complications* / Q000235:genetics; D005134:Eye Neoplasms / Q000150:complications* / Q000235:genetics; D016161:Genes, Retinoblastoma; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012175:Retinoblastoma / Q000150:complications* / Q000235:genetics