Retinoblastoma and the RB1 Cancer Syndrome

Retinoblastoma was the first tumor suppressor gene to be discovered and has defined the paradigm of the two-hit model of tumorigenesis. Because heritable retinoblastoma is associated with the RB1 cancer syndrome and puts offspring at risk of retinoblastoma development, it is important for patients to receive genetic counseling. Testing can be performed on blood or fresh frozen tumor. Common presenting signs in the developed world include leukocoria (white pupil) and strabismus (misalignment of the eyes). Most patients in the US are cured using surgery and/or chemotherapy.