Introduction
Retinoblastoma is the most common ocular malignancy found in children. The average age of diagnosis is 18 months.
Epidemiology
- Incidence: 1.00 cases per 100,000 person-years
- Most commonly see in infants
- Sex ratio: 1:1
| <1 | 1-5 | 6+ | 16+ | 30+ | 40+ | 50+ | 60+ | 70+ | 80+ |
Pathophysiology
Pathophysiology
- autosomal dominant
- caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
- around 10% of cases are hereditary
Clinical features
Possible features
- absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
- strabismus
- visual problems
Referral criteria
NICE cancer referral guidelines for retinoblastoma suggest the following:
Consider urgent referral (for an appointment within 2 weeks) for ophthalmological assessment for retinoblastoma in children with an absent red reflex.
Consider urgent referral (for an appointment within 2 weeks) for ophthalmological assessment for retinoblastoma in children with an absent red reflex.
Management
Management
- enucleation is not the only option
- depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
Prognosis
Prognosis
- excellent, with > 90% surviving into adulthood