Association and chance occurrence of aniridia and retinoblastoma.
case_report · Level V
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- Record sourced from PubMed, PMID 7977618.
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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.
Medical subject headings
- Aniridia
- Eye Neoplasms
- Retinoblastoma