---
title: Retinoblastoma
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/retinoblastoma/"
updated: "2025-12-17"
category: "Conditions & Diseases"
---

# Retinoblastoma

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