Medical Definition of Retinoblastoma

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Last Editorial Review: 1/24/2017

Retinoblastoma: A malignant eye tumor usually seen in children, that arises in cells in the developing retina that contain cancer-predisposing mutations in both copies of the gene RB1. Abbreviated RB. The most common sign of RB is a white pupillary reflex to light (leukocoria). There are two forms of RB: hereditary and sporadic. The inherited form of RB is usually present at birth as multiple tumors in both eyes. It is due to the transmission of an RB1 germline mutation followed by an acquired somatic RB1 mutation. The sporadic form of retinoblastoma has later onset and typically leads to a single tumor in only one eye. It is due to acquired mutations in both RB1 genes. Patients with hereditary RB are at increased risk of developing tumors outside the eye, including pinealomas (in the pineal gland of the brain), osteosarcomas, soft tissue sarcomas, and melanomas. When RB is detected at an early stage, it can sometimes be treated locally but often requires removal of the eye (enucleation). Early diagnosis and treatment of RB and RB-related tumors reduces morbidity and increases longevity.

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The colored part of the eye that helps regulate the amount of light that enters is called the: See Answer

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Last Editorial Review: 1/24/2017