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
- (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.