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Retinoblastoma: Clinical presentation, evaluation, and diagnosis

Paul L Kaufman, MD
Jonathan Kim, MD
Jesse L Berry, MD
Section Editors
Evelyn A Paysse, MD
Alberto S Pappo, MD
Deputy Editor
Carrie Armsby, MD, MPH


Retinoblastoma is the most common primary intraocular malignancy of childhood and accounts for 10 to 15 percent of cancers that occur within the first year of life [1]. Retinoblastoma typically presents as leukocoria (picture 1) in a child under the age of two years. Untreated retinoblastoma is a deadly disease; however, with advances in treatment, survival in the contemporary era is >95 percent. Prompt referral to an ocular oncologist and appropriate management by a multidisciplinary team are necessary to optimize visual outcome and survival.

The clinical presentation, evaluation, and diagnosis of retinoblastoma are reviewed here. The treatment and prognosis of retinoblastoma and the approach to children with leukocoria are discussed separately. (See "Retinoblastoma: Treatment and outcome" and "Approach to the child with leukocoria".)


Retinoblastoma occurs in heritable and nonheritable forms (figure 1):

Heritable retinoblastoma – Heritable (also called hereditary, familial, or germline) retinoblastoma is associated with germline mutations (ie, mutations that occur in reproductive cells [sperm and eggs]) in the retinoblastoma (RB1) gene. The term "heritable retinoblastoma" includes patients with bilateral disease, multifocal disease, those with a positive family history, and those with known germline mutations. Of note, approximately 15 percent of unilateral retinoblastoma cases are also due to germline mutations and are therefore heritable. In addition, most cases of heritable retinoblastoma result from de novo mutations and the family history is positive in only approximately 25 percent. Hence, a negative family history does not exclude heritable retinoblastoma. (See 'Genetic predisposition' below and 'Family history' below.)

Nonheritable retinoblastoma – Nonheritable (also called nonhereditary, nonfamilial, sporadic, or somatic) retinoblastoma results from somatic mutations (ie, mutations that occur in nonreproductive cells) in the RB1 gene. Patients with nonheritable retinoblastoma have unilateral, unifocal disease and tend to be diagnosed at a later age compared with heritable cases. Though the term "sporadic" is commonly used to describe nonheritable retinoblastoma, this is somewhat of a misnomer, since many sporadic cases (ie, cases without a prior family history) are actually due to de novo germline mutations and therefore are heritable.

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Literature review current through: Nov 2017. | This topic last updated: Nov 27, 2017.
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