2020–2021 BCSC Basic and Clinical Science Course™
4 Ophthalmic Pathology and Intraocular Tumors
Part II: Intraocular Tumors: Clinical Aspects
Chapter 19: Retinoblastoma
This chapter includes a related video. Go to www.aao.org/bcscvideo_section04 or scan the QR code in the text to access this content.
Highlights
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Retinoblastoma is a rare tumor with an incidence of 250–300 cases annually in the United States. Despite its infrequent occurrence overall, retinoblastoma is the most common primary intraocular cancer in children.
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In the United States, children with retinoblastoma most often present with leukocoria and/or strabismus.
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Retinoblastoma typically is caused by a mutation in RB1, a tumor suppressor gene. The RB1 mutation may be inherited from a parent who carries it or can result from a new germline (eg, heritable) or somatic mutation. The type of mutation—whether heritable or somatic—determines the patient’s prognosis for secondary tumors and the type of counseling the family should receive.
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Unlike with most tumors, including other intraocular tumors, biopsy is contraindicated in retinoblastoma, and diagnosis and classification are based solely on clinical features.
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In advanced unilateral cases, enucleation traditionally is performed. However, recent therapeutic improvements have led to more children undergoing eye-sparing treatment with intravenous or intra-arterial chemotherapy.
Excerpted from BCSC 2020-2021 series: Section 4 - Ophthalmic Pathology and Intraocular Tumors. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.