Skin Cancer

Retinoblastoma

Diagnosis

The evaluation in children with suspected retinoblastoma is carried out by or in consultation with an ocular oncologist and typically includes

  • Complete physical examination & Ophthalmologic examination under anaesthesia (EUA)
  • Ocular ultrasonography
  • Optical coherence tomography (OCT)
  • Magnetic resonance imaging (MRI) of the brain and orbits.

If there is clear evidence of a tumour outside of the eye, a full metastatic evaluation should be pursued, including:

  • Bone marrow aspiration and bone marrow biopsy – The doctor uses a needle to take a sample of marrow and blood from the hip bone.
  • Pathology is not necessary to confirm the diagnosis, and biopsy is contraindicated because of the risk of extraocular tumour seeding.
  • Radionuclide bone scan.
  • Molecular genetic testing of peripheral blood leukocytes is suggested for all affected patients to evaluate for the presence of a germline RB1 gene mutation.
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