Retinoblastoma in Children

What is retinoblastoma in children?

Retinoblastoma is a rare cancer of the retina of the eye. The retina is in the back of the eye. It’s the part of the eye that receives light. Retinoblastoma is the most common tumor affecting the eye in children. It almost always occurs in children less than 5 years old.

What causes retinoblastoma in a child?

The cancer is caused by a change in a gene. It may be a gene passed down from parents (inherited). Or it may be a gene change that happens by chance (sporadic).

In 1 out of 3 children with retinoblastoma, it’s present at birth (congenital), and the gene change is int all cells in the body. This is known as hereditary retinoblastoma. Of these children, 1 out of 4 has the gene passed on from parents. In this form, the retinoblastoma usually affects both eyes. It also increases the risk of other cancers such as sarcoma and melanoma.

In 2 out of 3 children with retinoblastoma, it occurs by chance. In these cases, it affects only one eye. There is not an increased risk of other cancers.

What are the symptoms of retinoblastoma in a child?

Symptoms may affect one or both eyes. Symptoms can occur a bit differently in each child. They can include:

  • Leukocoria. This is an abnormal white reflection from the retina of the eye. The dark center part of the eye (pupil) actually looks white. This may only be seen during a doctor’s exam or in a flash photo.
  • Strabismus (lazy eye). This is when the eyes are misaligned. The eyes don’t move together or look in the same direction.

Less common symptoms may include:

  • Pain, redness, or swelling of one or both eyes
  • Trouble seeing
  • Bulging of the eye

Most of the time, retinoblastoma has not spread (metastasized) to other areas of the body when it’s diagnosed. If it has spread, other symptoms may include:

  • Loss of appetite
  • Weight loss
  • Vomiting
  • Headache
  • Neurologic problems such as weakness, numbness, and trouble with movement
  • Lump (mass)

The symptoms of retinoblastoma can be like other health conditions. Make sure your child sees a healthcare provider for a diagnosis.

How is retinoblastoma diagnosed in a child?

Your child’s healthcare provider will ask about your child’s health history and symptoms. He or she will examine your child and pay close attention to the eyes. The healthcare provider will likely advise that your child see an eye specialist (ophthalmologist).

The ophthalmologist will check your child’s eyes with special tools. Your child may need a dilated indirect ophthalmoscopic exam. Your child may be given anesthesia medicine to sleep through the exam.

Your child may need other tests such as:

  • Ocular ultrasound. This test uses sound waves to create images of the eyes. 
  • CT scan. A series of X-rays and a computer are used to make images.
  • MRI. Large magnets, radio waves, and a computer are used to make detailed images.
  • Blood tests. Your child’s blood may be tested for signs of disease, and for gene changes.

A child may be diagnosed with no symptoms. This may be the case if you have a family history of retinoblastoma. Your child may have eye exams often to check for signs of the cancer. 

After a diagnosis of retinoblastoma, these tests will help your child’s doctor know if the cancer is inside the eye, how much of the eye is involved, and if it has spread beyond the eye. This process is called staging. The stage of a cancer is one of the most important things to know when deciding how to treat it. Doctors use 2 standard staging systems for retinoblastoma.

The newer system is called the International Classification for Intraocular Retinoblastoma. It divides these tumors into 5 groups lettered A through E. The groups are based on how likely it is that the eye can be saved. Group A means the tumor is small and not near important structures that allow your child to see. These tumors can likely be removed and vision can be saved. The higher the group, the more advanced the tumor is. A tumor in Group E means that doctors have little to no chance of saving the eye. The other groups then fall between these extremes.

The Reese-Ellsworth system is older and less commonly used. It groups retinoblastomas much like the International Classification system, based on whether the eye and vision can be saved. The system uses groups numbered 1 through 5. Group 1 means a good chance of saving the eye, and Group 5 means it’s not likely. The other groups fall between this.

Doctors may use other staging systems. The staging process for retinoblastoma can be very complex. Be sure to ask your child’s healthcare provider to explain the stage of your child’s cancer to you in a way you can understand.