Retinoblastoma is an eye cancer that begins in the retina — the sensitive lining on the inside of your eye. Retinoblastoma most commonly affects young children, but can rarely occur in adults.
Your retina is made up of nerve tissue that senses light as it comes through the front of your eye. The retina sends signals through your optic nerve to your brain, where these signals are interpreted as images.
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.
Because retinoblastoma mostly affects infants and small children, symptoms are rare. Signs you may notice include:
- 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
- Eye swelling
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.
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.
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