Retinoblastoma

Retinoblastoma is a rare form of retinal cancer that develops as the eye grows. It occurs primarily in children under the age of 4. Retinoblastoma can affect one eye (unilateral) or both eyes (bilateral). In most cases (85%) of unilateral retinoblastoma, the condition is not hereditary. If a child has retinoblastoma in both eyes, the disease is always hereditary. In the Netherlands, the disease is diagnosed in an average of 10–12 children per year. Approximately 60% of these children have unilateral retinoblastoma, and 40% have the bilateral form. Most children treated at Amsterdam UMC are the first in their family to have this condition.

As a baby, Rosaly had retinoblastoma in both eyes. In this video, she explains what retinoblastoma is.

The following symptoms may indicate retinoblastoma:

• The pupil appears white when light shines into the eye (cat’s eye). Watch this video.
• To develop a squint.
• Redness of the eye.

If retinoblastoma is suspected, a family doctor or pediatrician cannot diagnose the disease. You will need to see a specialist at Amsterdam UMC. Amsterdam UMC is home to the only center of expertise for retinoblastoma in the Netherlands. For more information, visit their website.

The doctor often performs one of the following tests:

• Ultrasound exam: A painless test that uses sound waves to create an image of the inside of the eye. Similar to a pregnancy ultrasound.
• Eye exam under anesthesia: The ophthalmologist examines both eyes while the child is asleep.
• MRI scan under anesthesia: An MRI scan assesses the tumor and the extent of its spread. Contrast dye makes the tumor more visible.
• Blood test (genetic testing): A blood sample is taken to determine whether the condition is hereditary. Results may take several months. If genetic testing has been done in the past, it may be worthwhile to have it done again, as techniques are constantly improving. People with hereditary retinoblastoma have a 50% chance of passing on the genetic predisposition to their children. Please also read this article about heredity in retinoblastoma.

Rosaly herself had retinoblastoma as a baby. She explains what the symptoms of the disease are.

Treatment depends on the size and location of the tumor, whether it has spread to other parts of the body, and the child’s overall health. Treatment is always tailored to the individual. Fortunately, about 95% of Dutch children with retinoblastoma are cured. Often, an eye must be removed, but if the tumor is not too large, the eye can be saved. An eye-sparing treatment plan usually lasts two years.

On the Amsterdam UMC website, you can find information about treatments for retinoblastoma.

Unfortunately, children with retinoblastoma usually have impaired vision in one eye, and sometimes in both. Furthermore, the residual symptoms depend on the treatment the child has received. If the child has undergone chemotherapy, they will often continue to be seen by the oncologist even after treatment has ended.

If a child has undergone external radiation therapy, they may later develop conditions such as cataracts, dry eyes, bleeding in the retina (radiation retinopathy), delayed bone growth in the eye socket, and an increased risk of new cancers in the area treated with radiation.

Children with the hereditary form of retinoblastoma have a slightly increased risk of developing other tumors in the body throughout their lives (secondary primary tumors). For this reason, the child will see an oncologist annually to investigate any symptoms at an early stage.

If a child sees with one eye from an early age, they learn to judge depth with that eye. For example, someone with one eye can participate in traffic just like anyone else and obtain a standard driver’s license . With one eye, a child can read and play sports, and participating in school activities is no problem either. However, the child does need to be a little more careful with the eye that sees. For example, wear protective eyewear when playing sports.

Read about other people’s experiences with retinoblastoma in our online library . You can also follow our retinoblastoma accounts on Instagram and Facebook. Or join the private Facebook group for retinoblastoma survivors and parents of children with retinoblastoma, or the retinoblastoma group in our WhatsApp community.