Retinoblastoma

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Disease

  • Malignant tumor of the retina
  • Most common primary malignant intraocular tumor in childhood
  • Patients are usually <5 years old, average age 18 months
  • Positive family history in approximately 10% of patients

Clinical Presentation

  • Initial findings
    • Leukocoria
    • Strabismus
    • Ocular inflammation
    • Visual impairment
  • White nodular mass 1
  • Endophytic: white, nodular, breaking through the inner limiting membrane (ILM), growing into the vitreous
  • Exophytic: yellowish subretinal mass, often with serous retinal detachment
  • Diffusely infiltrating: grows diffusely, simulating uveitis
  • Iris neovascularisation is common
  • Pseudohypopyon, tumor cells in the vitreous

Risk for Mutated RB1 Allele

  • If someone in the family is affected:
    • Parent: bilateral 50%; unilateral 7.5%
    • Sibling: bilateral 5%; unilateral 0.8%
    • Uncle/Aunt: bilateral 2.5%; unilateral 0.4%
    • Cousin 1st degree: bilateral 0.05%, unilateral 0.007%
    • Normal population: 0.007%

Screening Guidelines 2

Treatment

  • Chemoreduction
  • Intra-arterial / intravitreal chemotherapy
  • Cryo-/thermo-therapy, laser therapy, plaque radiotherapy
  • Enucleation only if the above therapeutic options are exhausted
  • Systemic chemotherapy for metastases

Differential Diagnoses

  • Persistent fetal vasculature (PFV)
    • Ultrasound: persistent portions of the hyaloid artery, no retinal tumor, shortened axial length
  • Coats disease
    • Ultrasound: no retinal tumor, cholesterol in subretinal fluid
    • Fluorescein angiography: classic telangiectatic vessels, ischemic areas
  • Ocular toxocariasis
  • Astrocytoma
  • Medulloepithelioma

Prognosis

  • Very good, with therapy >95% survival rate
  • With RB1 mutation, there is a 25% incidence of secondary tumors within 50 years
    • Osteosarcoma is the most common (40%), survival rate <50%
    • Increased risk of secondary tumors after radiotherapy

Sources