Retinoblastoma: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Retinoblastoma?
An eye doctor who treats children, called a pediatric ophthalmologist, usually finds retinoblastoma. A children's cancer doctor, called a pediatric oncologist, then helps plan treatment. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is retinoblastoma?
Retinoblastoma is a rare type of eye cancer that usually starts in early childhood, typically before the age of 5. It grows in the retina, the light-sensitive tissue at the back of the eye. One or both eyes may be affected.
Retinoblastoma is often curable when it is found early. If it is not treated promptly, the cancer can spread beyond the eye to other parts of the body. This advanced form can be life-threatening.
Symptoms
The most common first sign is a white look in the pupil, the dark center of the eye. Doctors call it leukocoria or the "cat's eye reflex." The whiteness is easiest to see in dim light or in photos taken with a flash.
Other signs can include:
- Crossed eyes, or eyes that do not point in the same direction. This is called strabismus and can cause squinting.
- A change in the color of the iris, the colored part of the eye.
- Redness, soreness, or swelling of the eyelids, or eye pain and redness.
- Poor vision or blindness in the affected eye.
The tumor can spread to the eye socket through the optic nerve, and it may also spread to the brain, lungs, and bones.
Causes and who gets it
Retinoblastoma is caused by a change in a gene that controls how cells divide. Most cases come from changes in a gene called RB1.
About one-third of retinoblastomas are hereditary, which means the gene change is in all of the body's cells and can be passed to the next generation. The other two-thirds are not hereditary, and those gene changes cannot be passed to children. People with the hereditary form typically develop cancer in both eyes. They also have a higher chance of other cancers, such as a brain cancer called pineoblastoma, a bone cancer called osteosarcoma, soft tissue sarcomas, and melanoma, a serious skin cancer.
Genetic counseling can help families understand their risk, especially if more than one family member has had the disease or if it occurs in both eyes.
How doctors diagnose it
A provider will do a complete physical exam, including an eye exam. These tests may be done:
- An eye exam after the pupil is widened with drops (dilated).
- An ultrasound of the eye, which uses sound waves to make a picture.
- A CT scan or an MRI of the head, which are two kinds of detailed pictures of the inside of the body.
Treatment
Treatment depends on the size and location of the tumor. A child may need more than one type of treatment at the same time. Treatments can have mild or serious side effects, so families should talk with the child's doctors about risks and benefits.
Chemotherapy, which uses drugs to kill cancer cells, is the most common treatment for retinoblastoma. It is often the first treatment doctors try, and it may help a child avoid surgery. It can be given through a vein, through an artery near the eye, or by injection directly into the eye.
Other treatments include:
- Cryotherapy, which freezes and thaws tumor cells with a very cold tool to kill them.
- Laser therapy, which heats and kills cancer cells or destroys the blood vessels that feed the tumor.
- Radiation therapy, which uses x-rays to kill cancer cells. For internal radiation, doctors place a small disc-shaped device behind the eye near the tumor. It is usually removed after 7 days.
Doctors may recommend surgery to remove the eye if the tumor is too big to save the eye, could spread outside the eye, or does not respond to other treatments.
If the cancer has not spread beyond the eye, almost all people can be cured. A cure may need strong treatment, and sometimes the eye must be removed. If the cancer has spread beyond the eye, the chance of a cure is lower.
When to see a doctor
Contact your child's provider promptly if you see signs of retinoblastoma, especially if your child's eyes look abnormal or appear abnormal in photos. Prompt care matters, because retinoblastoma that is not treated promptly can spread beyond the eye and can be life-threatening.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either kind of doctor can look at your child's eyes and photos when you have a concern, and can refer your child quickly to an eye specialist.
Common questions
Can retinoblastoma be cured?
Retinoblastoma is often curable when it is found early. If the cancer has not spread beyond the eye, almost all people can be cured.
Is retinoblastoma inherited?
Sometimes it is inherited. About one-third of cases are hereditary, and the other two-thirds are not.
Does retinoblastoma always mean losing the eye?
No, not always. Doctors may recommend removing the eye if the tumor is too big to save the eye, could spread outside the eye, or does not respond to other treatments. Chemotherapy is often tried first and may help a child avoid surgery.
Sources
- MedlinePlus - Retinoblastoma (Medical Encyclopedia)
- MedlinePlus Genetics - Retinoblastoma
- National Eye Institute - Treatment for Retinoblastoma
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
