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Highlights & Basics
- Retinoblastoma is the most common intraocular malignancy in children, with approximately 250 to 350 new cases per year in the US.
- 90% of all retinoblastoma cases are diagnosed by 3 years of age.
- Disease can be unilateral or bilateral.
- Most common presenting sign is leukocoria (white pupillary reflex), which can often be seen in photographs.
- In 30% to 40% of cases, the disease is associated with a germline mutation in the RB1 gene, which carries an associated increased risk of secondary nonocular tumors.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Images
Histopathology of retinoblastoma. This image demonstrates the classical features of retinoblastoma, including densely packed, small, round tumor cells with hyperchromatic nuclei and scant cytoplasm, arranged in sheets. The absence of Flexner-Wintersteiner rosettes in this specimen does not preclude the diagnosis, as their presence is not obligatory. These histopathological features are typical of this aggressive retinal tumor and provide critical information for diagnosis, staging, and prognosis
Light micrograph of a retinal section from a patient with retinoblastoma, a rare form of intraocular cancer. The tumor shows disrupted retinal architecture and infiltrative growth of atypical cells. Immunohistochemistry with anti-rhodopsin antibodies highlights areas of preserved photoreceptor differentiation within the retinal tissue. This staining aids in identifying residual retinal layers amidst the malignant cellular proliferation
Leukocoria (white pupillary light reflex) in the left eye of a patient with unilateral retinoblastoma
Large retinoblastoma focus in the left eye
Macular retinoblastoma in the right eye
Two large retinoblastoma foci in the left eye; note the associated subretinal seeding
Vitreous seeding associated with retinoblastoma
Ultrasound of retinoblastoma
MRI pattern of retinoblastoma with optic nerve involvement (sagittal enhanced T1-weighted sequence)
Aspect of trilateral retinoblastoma (MRI)
Citations
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de Graaf P, Goricke S, Rodjan F, et al. Guidelines for imaging retinoblastoma: imaging principles and MRI standardization. Pediatr Radiol. 2012 Jan;42(1):2-14.[Abstract][Full Text]
American College of Radiology. ACR appropriateness criteria: orbits, vision and visual loss. 2017 [internet publication].[Abstract][Full Text]
Hutchinson AK, Morse CL, Hercinovic A, et al. Pediatric eye evaluations preferred practice pattern. Ophthalmology. 2023 Mar;130(3):P222-70.[Abstract][Full Text]
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