Retinoblastoma is a malignant retinal tumour of early childhood. Prompt diagnosis and treatment are vital to save life and, where possible, vision.
Signs and genetics
Parents often notice abnormal appearance of the pupil.
- Leukocoria white pupillary reflex and sometimes strabismus
- Unilateral or bilateral, heritable forms caused by germline RB1 mutations
- Associated risk of second primary tumours in hereditary cases
- Ultrasound, MRI, and examination under anaesthesia confirm the diagnosis
Treatment
Approach depends on tumour size, number, and laterality.
- Systemic or intra-arterial chemotherapy, often combined with focal treatments like laser or cryotherapy
- Intravitreal chemotherapy for vitreous seeding in specialised centres
- Enucleation when the eye cannot be preserved safely
- Genetic counselling and long-term oncologic follow-up for survivors
