Bilateral Retinoblatoma and the RB1 Gene
Ophthalmic Technology Student
What is Bilateral Retinoblatoma and the RB1 Gene?
Retinoblastoma (RB) is a rare eye cancer affecting both infants and children. It occurs in about 1 of 20,000 individuals, of which 40% experience the hereditary bilateral version with tumors in both eyes and many cells in the body. The disease is characterized by its associated RB1 gene which exists in every cell of the body and follows an X linked recessive inheritance pattern in bilateral RB. The RB1 gene’s role is to inactivate or prevent uncontrolled cellular division as seen in all malignant cancers, otherwise cells are allowed to undergo rapid DNA replication and division resulting in varying severity forms of the disease. All families affected by RB experience different mutations of the cancer, but all members within the same family experience the exact same type of mutation (Canadian Retinoblastoma Society).