What is Retinoblastoma?

Retinoblastoma is:

• a rare cancer of the retina
  
• caused by defects (mutations) in the RB1 gene
  
• heritable in 40% of families but inherited in only 10% of families
  

Persons with retinoblastoma in BOTH eyes have heritable retinoblastoma and have a mutation in (at least) one copy of the gene. Persons who have retinoblastoma in one eye either have normal RB1 genes (85%), or else heritable retinoblastoma (15%).

Early treatment can save the vision, and the life, of the patient. Molecular testing of blood relatives can determine which other persons in a family are at risk for retinoblastoma. Children found not to carry the family's RB1 mutation are not at risk. Children who do carry the RB1 gene mutation can be examined frequently for tumors and treated early.