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Key Features

  • Most common intraocular tumor in pediatric patients and causes 5% of cases of childhood blindness

  • 90% of the tumors diagnosed before age 5 years

  • Bilateral involvement occurs in 20–30% of children and typically is diagnosed at a younger age (median age 14 months) than unilateral disease (median age 23 months)

Clinical Findings

  • Leukocoria (white pupillary reflex) is the most common sign (found in 60% of patients)

  • Parents may note an unusual appearance of the eye or asymmetry of the eyes in a photograph

  • Strabismus is seen when the tumor involves the macula and central vision is lost

  • Rarely (in 7% of patients), a painful red eye with glaucoma, a hyphema, or proptosis is the initial manifestation

  • A single focus or multiple foci of tumor may be seen in one or both eyes at diagnosis

  • Bilateral involvement occurs in 20–30% of children

Diagnosis

  • A detailed ophthalmologic examination under general anesthesia is required when retinoblastoma is suspected

  • Diagnosis is made by the appearance of the tumor within the eye without pathologic confirmation

  • A white to creamy pink mass protruding into the vitreous matter suggests the diagnosis; intraocular calcifications and vitreous seeding are virtually pathognomonic

  • A CT scan of the orbits and MRI of the orbits/brain

    • Detects intraocular calcification

    • Evaluates the optic nerve for tumor infiltration

    • Detects extraocular extension of tumor

  • Metastatic disease of the marrow and meninges can be ruled out with bilateral bone marrow aspirates and biopsies plus CSF cytology

Treatment

  • Choice of therapy depends on the size, location, and number of intraocular lesions

  • Absolute indications for enucleation include

    • No vision

    • Neovascular glaucoma

    • Inability to examine the treated eye

    • Inability to control tumor growth with conservative treatment

  • External beam irradiation has been the mainstay of therapy; a total dose of 35–45 Gy is administered

  • Cryotherapy, photocoagulation, and radioactive plaques can be used for local tumor control

  • Patients with metastatic disease receive chemotherapy

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