vi medicine informatics
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Retinoblastoma – Most common ocular tumor of childhood. Usually presents with a WHITE pupillary reflex (leukocoria) in children >5 years old. 40% is familial. Familial RB occurs due to a germline mutation that effects the Rb tumor suppressor gene on Chromosome 13. Children with familial RB often require a “second hit” mutation later in life leading to additional tumors, usually sarcomas such as osteosarcoma.
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