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.
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.
In the United States, children with retinoblastoma most often present with leukocoria and/or strabismus.
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.
Unlike with most tumors, including other intraocular tumors, biopsy is contraindicated in retinoblastoma, and diagnosis and classification are based solely on clinical features.
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.