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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.