Diagnosis of retinoblastoma

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

Reference:

• (1) McDaid C et al. Systematic review of effectiveness of different treatments for childhood retinoblastoma. Health Technol Assess. 2005;9(48):iii, ix-x, 1-145.
• (2) National Cancer Institute 2012. Retinoblastoma treatment
• (3) Childhood Eye Cancer Trust. Retinoblastoma. Information for professionals.
• (4) Chintagumpala M et al. Retinoblastoma: review of current management. Oncologist. 2007;12(10):1237-46
• (5) Melamud A, Palekar R, Singh A. Retinoblastoma. Am Fam Physician. 2006;73(6):1039-44.