diagnosis of retinoblastoma

Last reviewed 01/2018

Majority of cases present within the first 2 years of life (at a mean age of 18 months) (1)

  • hereditary retinoblastoma is seen at a younger age than the non-hereditary disease
  • in patients presenting with unilateral retinoblastoma
    • if younger than 1 year - suspect hereditary disease
    • if older children -  more likely to have the nonhereditary form of the disease (2)

Patients who presents with symptoms and signs of retinoblastoma should have a red reflex test done to determine whether the child needs to be referred for a specialist examination.

  • normal red reflex- no referral
  • red reflex absent
    • obvious +/-asymmetry   - urgent referral
    • unsure/difficult assessment - Paediatric Ophthalmology Primary Care Clinic referral
  • red reflex abnormal - "urgent" referral (3).

Further evaluation of tumour is carried out with the following examinations:

  • ultrasonography of the eyes - to detect intralesional calcification,
  • magnetic resonance imaging (MRI) of the brain and orbits - to check for extraocular extension and to rule out trilateral retinoblastoma in patients with germline mutations (4,5)
  • lumbar puncture with cerebrospinal fluid analysis, bone marrow aspiration, bone scan -  indicated in advanced intraocular disease or with evidence of extra-ocular disease at presentation