Retinoblastoma

A rare form of eye cancer, retinoblastoma is the most common form of cancer affecting the eye in children. Retinoblastoma may occur in one or both eyes.

Symptoms

• Eye swelling
  
  
• A white color in the center circle of the eye (pupil) when light is shone in the eye, such as when taking a flash photograph
• Eyes that appear to be looking in different directions
• Eye redness

Causes

Retinoblastoma occurs when nerve cells in the retina develop genetic mutations. These mutations cause the cells to continue growing and multiplying when healthy cells would die. This accumulating mass of cells forms a tumor.

Retinoblastoma cells can invade further into the eye and nearby structures. Retinoblastoma can also spread (metastasize) to other areas of the body, including the brain and spine.

In the majority of cases, it's not clear what causes the genetic mutations that lead to retinoblastoma. However, it's possible for children to inherit a genetic mutation from their parents.

Retinoblastoma that is inherited

Gene mutations that increase the risk of retinoblastoma and other cancers can be passed from parents to children.

Hereditary retinoblastoma is passed from parents to children in an autosomal dominant pattern, which means only one parent needs a single copy of the mutated gene to pass the increased risk of retinoblastoma on to the children. If one parent carries a mutated gene, each child has a 50 percent chance of inheriting that gene.

Although a genetic mutation increases a child's risk of retinoblastoma, it doesn't mean that cancer is inevitable.

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

Complications

Children treated for retinoblastoma have a risk of cancer returning in and around the treated eye. For this reason, your child's doctor will schedule follow-up exams to check for recurrent retinoblastoma. The doctor may design a personalized follow-up exam schedule for your child. In most cases, this will likely involve eye exams every few months for the first few years after retinoblastoma treatment ends.

Additionally, children with the inherited form of retinoblastoma have an increased risk of developing other types of cancers in any part of the body in the years after treatment. For this reason, children with inherited retinoblastoma may have regular exams to screen for other cancers.

Prevention

In most cases, doctors aren't sure what causes retinoblastoma, so there's no proven way to prevent the disease.

Prevention for families with inherited retinoblastoma

In families with the inherited form of retinoblastoma, preventing retinoblastoma may not be possible. However, genetic testing enables families to know which children have an increased risk of retinoblastoma, so eye exams can begin at an early age. That way, retinoblastoma may be diagnosed very early — when the tumor is small and a chance for a cure and preservation of vision is still possible.

If your doctor determines that your child's retinoblastoma was caused by an inherited genetic mutation, your family may be referred to a genetic counselor.

Genetic testing can be used to determine whether:

• Your child with retinoblastoma is at risk of other related cancers
• Your other children are at risk of retinoblastoma and other related cancers, so they can start eye exams at an early age
• You and your partner have the possibility of passing the genetic mutation on to future children