Retinoblastoma is the most common children’s eye cancer. There are two types, heritable and nonheritable. The heritable type affects both eyes and produces multiple tumors, while the nonheritable type affects one eye and produces one tumor.

The source of the above information is the American Cancer Society (ACS).

A white pupil — usually the black center of the colored part of the eye — is the symptom doctors most frequently see. Other symptoms involve crooked eyes (strabismus), eye redness and pain, and watery eyes.

Treatment may include interventions that doctors use for other types of cancer, such as chemotherapy, radiation therapy, and surgery.

This article discusses retinoblastoma, including the symptoms, diagnosis, types, treatment, survival rates, and screening. It also looks briefly at other types of children’s eye cancer.

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Retinoblastoma is a cancer that starts in the retina, the light-sensitive structure in the back of the eye. The condition may lead to blindness and can also be life threatening.

While it is the most frequent type of eye cancer in children, it is rare, accounting for approximately 2 in 100 of all childhood cancers.

Retinoblastoma most commonly affects children younger than age 5, but in rare cases, it can affect older children and adults. It may involve one or both eyes.

Retinoblastoma types

Retinoblastoma may be heritable or nonheritable. Details are below:

Heritable, or congenital

This type affects 1 in 3 children with retinoblastoma. It stems from a mutation of the RB1 gene. An abnormality in the RB1 gene is congenital, which means a person has it at birth. The abnormal RB1 gene is in every cell of the body, including those of the retina.

Although this is heritable, most children have no family history of the cancer. Instead, they develop it while in the womb. Only a small percentage of children with this gene inherit it from a parent.

Typically, children with the RB1 gene mutation have retinoblastoma in both eyes, and they frequently have several eye tumors. Additionally, since the gene mutation is in every cell, they are more likely to develop cancer in other parts of the body.

Non-heritable, or sporadic

This type affects two out of three children with retinoblastoma. The mutated gene is in one cell of one eye, which results in the development of only one tumor in one eye. Also, it does not increase cancer risk in other parts of the body.

Symptoms of children’s eye cancer (retinoblastoma)

The most common symptom is a white pupil. Other symptoms include:

  • teary or watery eyes
  • crossed eyes or one eye that drifts in a different direction
  • poor vision
  • eye redness, pain, or swelling

The diagnostic process includes the following: ­­­­­

  • Medical history: This includes checking for a family history of retinoblastoma.
  • Physical exam: This entails looking for signs of illness, such as lumps or anything that appears unusual.
  • Eye exams with a dilated pupil: These tests involve widening the pupil to permit a view of the inside of the eye, including the retina. There are different types, such as:
    • ophthalmoscopy, which involves using a magnifying lens and light to view the retina and optic nerve
    • florescent angiography, a procedure that shows the blood vessels and flow of blood in the eye
    • electroretinography, which involves the use of small electrodes and light to study the retina
  • Ultrasound of the eye: This uses high-energy sound waves to make echoes, which make an image.
  • MRI scan of the eye: This uses radio waves, a magnet, and a computer to make a series of detailed pictures.
  • RB1 gene test: This is a blood test to check for a change, or mutation, in the RB1 gene.

Does screening for retinoblastoma exist?

Screening involves testing for a condition when a person does not show signs or symptoms of it. No widely recommended tests for retinoblastoma exist. However, a parent, relative, or doctor finds the condition early in many children.

A child with retinoblastoma can receive a cure if a doctor detects the condition before it spreads outside of the eye and starts treatment early. Treatment options include:


Chemotherapy refers to medications that shrink a tumor. It is the most common intervention and is frequently the first option a doctor tries. Different methods of chemotherapy include:

  • Intravenous: This consists of injecting medication into a vein. While it is often in the arm, it sometimes may come via a device known as a port, which a doctor puts in the chest.
  • Intra-arterial: This delivers anticancer drugs directly to the eye. A doctor puts a catheter into an artery that leads to the eye and gives the anticancer drug through the catheter. After giving the drug, a doctor may insert a small balloon into the artery to block it and keep most of the anticancer drug trapped near the tumor.
  • Intraocular: This denotes injecting medication directly into the eye. It is an option when tumor cells are floating inside the eye.

Laser therapy

Lasers may heat and kill cancer cells directly. They can also destroy the blood vessels in the eye that nourish the tumor.


Another term for cryotherapy is freeze therapy. It involves placing a freezer pen on the eye surface and then freezing and thawing the tumor several times. This destroys the tumor and helps prevent cancer cells from spreading outside the eye.


Radiation uses X-rays to kill cancer cells. Internal radiation entails temporarily implanting a device near the eye tumor, which sends radiation into the tumor cells. External radiation transmits radiation into the body from a machine, but this is not common for retinoblastoma.


In some cases, complete eye removal may be necessary to eliminate the tumor. Doctors consider surgery if:

  • The tumor may spread beyond the eye.
  • The tumor does not respond to other treatments.
  • The tumor is too large to save the eye.

More than 9 in 10 children in the United States receive a cure. The outlook is not as good if the cancer spreads outside the eye.

A person with the heritable type has a higher risk of developing a secondary cancer in another part of the body many years later in adolescence or adulthood.

The most common type of secondary cancer in retinoblastoma is sarcoma, which is cancer in a bone or soft tissue. When this happens, survival is less than 50%.

While retinoblastoma is the most common type of eye cancer in children, other types, such as medulloepithelioma and ocular melanoma, can occur.

Medulloepithelioma is a very rare type of tumor that most frequently starts in the front of the eye behind the colored iris. Most of the tumors are cancerous, but they rarely spread outside the eye.

Ocular melanoma is the most common type of eye cancer. It can affect either adults or children, but it is extremely rare in children.

Retinoblastoma is a children’s eye cancer that starts in the retina. Depending on whether a child has the heritable or inheritable type, it can affect both eyes or only one.

The most common symptom is a white pupil. To diagnose the cancer, doctors may use several types of dilated pupil exams, imaging, and gene tests.

Treatment includes chemotherapy, laser therapy, cryotherapy, radiation therapy, and surgery.

The outlook is good if a doctor catches the cancer before it spreads outside the eye. It is important for a parent to be aware of the symptoms and report them promptly to a doctor.