What is Retinoblastoma?

Retinoblastoma is a form of eye cancer. This particular type of eye cancer begins in the retina, which is the part of the eye that takes light that enters the eye and transmits it to the optic nerve to create an image in the brain. Retinoblastoma is a rare type of cancer. It generally affects children but in some very rare cases, it can occur in adulthood as well.

Retinoblasts are the cells that form the retina that develop during early pregnancy. It is possible for retinoblasts to begin growing out of control rather than develop into more mature retinal cells, which is what occurs when a child suffers from retinoblastoma. As the retinal cells continue to grow and multiply, a tumor develops in the retina.

Sometimes, retinoblastoma can spread beyond the retina. This can involve the tumor and cancer cells invading other areas of the eye. Retinoblastoma can also metastasize and get into the spine and/or the brain. The exact causes of retinoblastoma and the genetic mutations that cause it are usually unknown. However, if one of the child’s parents also had retinoblastoma, the genetic abnormality could be inherited.

What are the Symptoms of Retinoblastoma?

Retinoblastoma can cause a variety of symptoms. Because this cancer is often found in small children, parents may notice that one or both of the child’s eyes appear red or swollen. The eyes may also be irritated or painful. With retinoblastoma, a white or yellowish mass may be visible when looking at the eye and a white glow may be evident with a camera flash. If a child’s eyes seem to go off in different directions or are crossed, they may have a retinoblastoma tumor.

Retinoblastoma Causes

Retinoblastoma is caused by genetic mutations of the nerve cells in the retina. The mutation causes cells to grow and multiply at a far faster rate than cells die, which creates an accumulating mass known as a tumor. If left untreated, the cells will begin to invade other parts of the eye or even metastasize to other parts of the body, such as the spine and brain.

Although in many instances the cause of the genetic mutations are unknown, in some cases they occur as a result of inheriting a genetic trait from parents. Hereditary retinoblastoma is an autosomal dominant trait, which means that just one parent has to have a copy of the mutated gene for the child to have a 50% chance of having the same gene. However, just because a child inherits the mutation doesn’t mean to say that they will definitely develop retinoblastoma.

How is Retinoblastoma Treated?

There are numerous treatment options for retinoblastoma depending on whether it affects one or both eyes, the stage of the cancer, and whether or not it has spread beyond the retina. Chemotherapy and radiation are both treatment options for retinoblastoma. Laser therapy and cryotherapy are also known as focal therapies and can be used to target the retinal tumor and shrink the tumor or stop tumor growth. The surgical removal of the affected eye is also an option in some cases and may prevent the need for any other retinoblastoma treatments.

Retinoblastoma Prevention

It isn’t possible to prevent retinoblastoma, but early diagnosis and treatment may help to prevent the cancer from spreading to other parts of the eye and body. People with a family history of retinoblastoma should have their children screened for the condition via regular ophthalmologist examinations.

It’s also important to look out for symptoms such as:

  • Pupil that appears white on flash photography of the child
  • Redness and swelling of the eye
  • Eyes appear to look in different directions

Genetic testing may also be a helpful resource for parents with a family history of retinoblastoma. The testing will determine whether a child has inherited the genetic mutation, and could also offer insight into their risk of developing other related cancers. Although genetic testing won’t prevent retinoblastoma, it might help to make parents more prepared for the possibility of the cancer and allow them to understand what types of medical exams are necessary.

Last Reviewed:
October 09, 2016
Last Updated:
December 11, 2017