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Retinoblastoma is a rare, malignant cancer of the retina, the light-sensitive tissue at the back of the eye. It is the most common form of eye cancer in children and usually occurs before the age of five.
read more about retinoblastoma for children ...The cause of the cancer involves a mutation in the RB1 gene, which normally acts as a tumor suppressor. When this gene is mutated or inactive, it allows the cells of the retina to grow uncontrollably, resulting in the formation of a malignant tumor. This genetic failure permits the rapid and unregulated proliferation of retinal cells, leading to tumor growth. The disease can be unilateral (affecting one eye) or bilateral (affecting both eyes) depending on whether the genetic mutation is inherited or occurs spontaneously.
Symptoms often first noticed by parents or pediatricians require immediate medical attention. The most recognizable sign is a visible white reflection in the pupil, known as leukocoria, which replaces the normal red reflex seen in photographs. This white glow is caused by the tumor mass reflecting light back toward the observer, and it is a strong diagnostic indicator. Some children also develop a new, noticeable onset of eye misalignment (strabismus), where one eye appears to drift inward or outward.
Diagnosis requires an ophthalmic examination under anesthesia, using specialized equipment to view the tumor inside the retina. Imaging tests (MRI or ultrasound) are used to confirm the tumor size and to check for spread outside the eye.
Treatment is managed by an ocular oncologist and depends on the tumor size and location. Options include laser treatment, freezing (cryotherapy), chemotherapy delivered directly to the eye, radiation, or, in severe cases, surgical removal of the eye (enucleation).
Early intervention is necessary for two reasons: to save the child's life and to save the child's vision. Because the tumor can spread to the brain via the optic nerve, prompt diagnosis is critical for a high survival rate.
No, leukocoria can be caused by other conditions like cataracts, but it must be immediately investigated by an ophthalmologist.
About 40 percent of retinoblastoma cases are inherited, meaning the child has the mutation in all their cells (hereditary form).
Treatment for one eye may use techniques that spare the vision in the other eye, depending on the tumor staging.
If you notice a "white pupil" (leukocoria) in photos of your child or if their eyes are misaligned (strabismus), see a pediatric ophthalmologist urgently. Retinoblastoma is a life-threatening cancer of the retina, but it has a survival rate over 95% if caught and treated early.
AAO. What is Retinoblastoma? (aao.org). 2024.
National Cancer Institute. Retinoblastoma Treatment (cancer.gov). 2025.
Mayo Clinic. Retinoblastoma Symptoms (mayoclinic.org). 2024.
St. Jude Children's Research Hospital. Retinoblastoma (stjude.org). 2024.