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 papillary 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.
10-year survival is 99% in resource-rich countries. Patients in resource-poor countries typically present with extraocular extension or metastatic disease with a dismal prognosis.
Treatment typically involves chemotherapy (systemic or intra-arterial) plus focal therapy with laser or cryotherapy. In advanced cases, enucleation may be required.
History and exam
Key diagnostic factors
- age <3 years
- leukocoria (white pupillary reflex)
- positive family history
- pseudo-orbital cellulitis
- 13q syndrome
Other diagnostic factors
- visual disturbances
- ocular pain
- mutation in RB1 gene
- HPV viral exposure
- advanced paternal age
1st investigations to order
- funduscopy and examination under anesthesia
- wide-field fundus photography and spectral domain optical coherence tomography (sdOCT)
- ophthalmic A- and B-scan ultrasound
Investigations to consider
- genetic testing
- MRI head/orbit
- bone marrow aspiration
- lumbar puncture
with vitreous seeding
without vitreous seeding
- Coats disease (exudative retinitis or retinal telangiectasis)
- Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)
- Retinopathy of prematurity (ROP)
- Screening children at risk for retinoblastoma
- Pediatric eye evaluations PPP
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