On this page
Referral and warning signs
When to refer
Immediate urgent referral to Ophthalmologist / Ocular Oncology Centre for ANY child with suspected leukocoria or retinoblastoma.
Red flags
- Leukocoria (white pupil reflex)
- New onset strabismus in young child
- Proptosis
- Red, painful eye with suspected tumour
Signs and symptoms
- Leukocoria ('white pupil' or 'cat's eye reflex') - white/yellowish reflection seen in pupil, often noticed in photographs.
- Strabismus (squint / 'crossed eyes').
- Decreased vision.
- Red, painful eye (if secondary glaucoma or inflammation).
- Proptosis (bulging eye - late sign).
- Different coloured irises (heterochromia - rare).
Risk factors
- Hereditary form (germline mutation in RB1 gene) - associated with bilateral disease and increased risk of secondary cancers.
- Family history of retinoblastoma.
Diagnosis
Clinical assessment
Suspect in young child presenting with leukocoria or strabismus. Requires urgent ophthalmological evaluation.
Investigations
- Dilated Funduscopic Examination (Ophthalmologist): Visualizes tumour(s) on retina.
- Ocular Ultrasound: Assess tumour size, calcification, rule out other causes.
- MRI Scan (Orbit/Brain): Assess intraocular extent, optic nerve invasion, rule out intracranial tumour (trilateral retinoblastoma - pineal gland).
- CT Scan (less preferred due to radiation, used if MRI unavailable or calcification assessment needed).
- Systemic staging (if extraocular spread suspected): Bone marrow aspiration/biopsy, Lumbar puncture, Bone scan.
- Genetic testing (for RB1 mutation).
Diagnostic criteria
Clinical diagnosis based on funduscopic appearance, confirmed by imaging. Biopsy generally avoided due to risk of tumour seeding.
Management
Non-pharmacological management
- Urgent referral to specialized Ocular Oncology centre.
- Management depends on stage (intraocular vs extraocular), laterality, potential for vision preservation.
- Enucleation (eye removal): For large tumours with no useful vision, or invasive disease.
- Focal therapies (vision-sparing): Laser photocoagulation, Cryotherapy, Plaque radiotherapy (Brachytherapy).
- External Beam Radiotherapy (EBRT): Used less now due to long-term risks, reserved for specific situations.
Pharmacological treatment
- Chemotherapy (Systemic or Intra-arterial): Used to shrink tumour before focal therapy (chemoreduction), treat metastatic disease, or as adjuvant therapy. Common agents: Vincristine, Etoposide, Carboplatin.
- Intravitreal chemotherapy (direct injection into eye - specialist).
Monitoring
Close long-term follow-up with ophthalmologist essential to monitor for recurrence, new tumours (in hereditary cases), and treatment side effects. Monitoring for secondary cancers in hereditary cases.
Complications
- Vision loss / Blindness
- Metastasis (to brain, bone marrow, liver, lymph nodes)
- Secondary glaucoma
- Treatment side effects (chemo toxicity, radiation effects, cosmetic issues after enucleation)
- Secondary malignancies (esp. osteosarcoma, soft tissue sarcoma in hereditary cases)
Prevention
- Genetic counselling and screening for families with hereditary retinoblastoma.
Patient education
- (To parents/guardians) Explain retinoblastoma as eye cancer in children.
- Need for urgent specialist evaluation.
- Treatment options (potential for eye removal vs vision-sparing).
- Importance of treatment adherence and long-term follow-up.
- Genetic implications if hereditary form.
- Support resources.
Uganda-specific notes
Relatively common childhood cancer in Uganda. Leukocoria is key sign often picked up late. Access to specialized ocular oncology care, advanced imaging, focal therapies, and genetic testing is limited, primarily at referral centres like UCI/Mulago Ophthalmology.
References
- Uganda Clinical Guidelines (UCG) 2023
Chapter 12, Section 12.3.1