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Symptoms, Causes, Diagnosis, & Treatment

Retinoblastoma is a rare type of eye cancer that can affect children and is usually under the age of 5. Check out an explanation of the symptoms, causes, and how to treat it below.

Retinoblastoma: Symptoms, Causes, Diagnosis, and Treatment

What is Retinoblastoma?

Retinoblastoma is an eye cancer that starts in the retina. The retina is a thin layer at the back of the eyeball that is sensitive to light.

After that, this thin layer sends signals through the optic nerve to the brain, where these signals are interpreted as images.

Retinoblastoma occurs when nerve cells in the retina grow in uncontrolled size and number. These cells can spread to the eyes and the surrounding area, even cells can spread to the brain and spinal cord.

This rare type of eye cancer is most common in children and can occur in one or both eyes.

Symptoms of Retinoblastoma

Because this disease more often affects children, the role of parents is important to see the symptoms that appear. Here are signs that you should pay attention to, including:

  • The white color in the center of the eye circle (pupil) appears when exposed to flash light.
  • Eyes are not focused, seen staring in different directions.
  • Red eye.
  • Swollen eyes.

When is the Right Time to See a Doctor?

Even though this type of eye cancer is rare, if you notice a change in a child’s eye that worries you, consult your doctor immediately. The doctor will probably explore other more common eye conditions first.

If you have a family history of this disease, ask the doctor when the child should start having tests for signs of this disease.

Also Read: Lazy Eye: Symptoms, Causes, Diagnosis, and Treatment

Causes of Retinoblastoma

This condition occurs when nerve cells in the retina experience genetic mutations. This mutation causes cells to continue to grow and multiply, causing healthy cells to die.

This accumulated mass of cells forms a tumor. In most cases, it’s not clear what caused the genetic mutation to cause this condition.

Risk Factors

Gene mutations that increase the risk of these and other cancers can be passed from parent to child.

Inherited retinoblastoma is passed from parent to child in an autosomal dominant pattern, meaning only one parent needs one copy of the mutated gene to pass the increased risk of this disease to a child.

If one parent carries the mutated gene, each child has a 50 percent chance of inheriting the gene.

Children with the inherited form of retinoblastoma tend to develop the disease at an earlier age. Inherited retinoblastoma also tends to occur in both eyes, compared to one eye.

Although the risk of this disease is much higher in children whose parents have congenital (inherited) retinoblastoma, in the majority of cases, a child who has retinoblastoma does not have a family history of this condition.

In addition to hereditary factors, this disease is generally diagnosed in children under the age of 3 years and often causes tumors in both eyes.

Mostly, congenital retinoblastoma is found during the first year of life, whereas conditions that are not inherited tend to be diagnosed in children aged 1 and 2 years. This disease rarely occurs in children after the age of 6 years.

Also Read: 9 Causes of Eye Cancer and Its Characteristics You Need to Know!

Diagnosis of Retinoblastoma

The following are some tests that doctors may recommend to diagnose this disease, including:

This examination aims to find out what causes the symptoms to appear. In order for the examination to run smoothly, the doctor may recommend using anesthesia so that the child remains calm.

This test can help your doctor determine whether the disease has progressed to affect other structures around the eye. Some of the tests that may be done are ultrasound, CT scan, and MRI.

Retinoblastoma Treatment

Treatment for the condition depends on the size and location of the tumor, whether the cancer has spread to areas other than the eyes, and the child’s overall health.

Here are some treatments that can be done, including:

Chemotherapy is treatment using drugs. Chemotherapy can help shrink tumors so that other treatments can be used to treat any remaining cancer cells. This medication can also be used to treat cancer that has spread beyond the eyeball.

Radiation therapy uses light rays to kill cancer cells. In some cases, a radioactive substance is placed in or around the tumor to kill tumor cells.

In other cases, radiation is applied to the tumor from outside the body. A large machine emits a beam that is targeted at the tumor.

This therapy can be used to destroy the blood vessels that feed tumors and kill cancer cells. This treatment therapy uses light beams to destroy abnormal tissue in the body.

  • Cold Treatment (Cryotherapy)

Very cold substances (such as liquid nitrogen) are used to freeze cancer cells. After the cells freeze, the substance is removed and the cells thaw. This process of freezing and thawing is repeated several times to kill the cancer cells.

  • Heat Treatment (Thermotherapy)

The extreme heat from this therapy is targeted to kill cancer cells. In addition, this therapy is effective for reducing pain associated with muscle tension or other types of pain.

Surgical procedures are performed when the condition is severe and there are no other options. Eyeball removal procedures can help prevent cancer from spreading to other areas of the body.

The removed eye might make a person experience difficulties in carrying out daily activities.

Also Read: Parents Must Know, These are 8 Ways to Maintain Children’s Eye Health

Retinoblastoma complications

Children who have experienced this condition are at risk for eye cancer recurrence. Usually the doctor will schedule follow-up tests to check the progress of this disease. In some cases, eye tests during the first year after treatment are still required.

In addition, children with the inherited form of retinoblastoma have an increased risk of developing other types of cancer in other parts of the body in the years following treatment. Children with this condition may have regular tests to check for other cancers.

Prevention of Retinoblastoma

Given that the exact cause of this disease is not yet known clearly, so there is no proven effective way to prevent it.

While inherited retinoblastoma is impossible to prevent, genetic testing allows families to find out which children have a higher risk of developing the disease.

If your doctor determines that the condition is caused by an inherited genetic mutation, your family may be referred to a genetic counselor.

  1. Anonymous. Retinoblastoma. (Accessed July 8, 2020).
  2. Anonymous. Retinoblastoma. (Accessed July 8, 2020).
  3. Kierstan Boyd. Retinoblastoma. 2020. (Accessed July 8, 2020).
  4. Langmaid, Stephanie. 2022. What Is Retinoblastoma?. (Accessed 9 February 2023)

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