Retinoblastoma

Retinoblastoma is a rare eye cancer that starts in your child’s retina. This is the area at the back of your eye that senses light. Most children receive a diagnosis before age 3. Early diagnosis and treatment can cure retinoblastoma. But the disease can lead to vision loss or blindness.

Types of retinoblastomas

There are three types of this cancer:

• Unilateral: There’s cancer in one eye only. About 6 out of 10 children with this type have unilateral retinoblastoma.
• Bilateral: It affects both eyes.
• Trilateral: There’s cancer in your child’s retina and their pineal gland. Bilateral and trilateral retinoblastoma account for 4 out of 10 cases of this disease.

Symptoms of retinoblastoma

Leukocoria is the earliest and most common symptom. Your child’s pupil may look white. You may notice the unusual color in photographs taken with a flash in dim light. Other symptoms include:

• Bulging eyes
• Enlarged eyeballs
• Misaligned eyes
• Blood collecting in the front part of your child’s eye
• Swelling or inflammation

Retinoblastoma causes

A genetic change (mutation) causes this disease. Retinoblastoma happens when the RB1 gene changes (mutates). The RB1 gene manages how quickly retinal cells multiply. In retinoblastoma, the cells multiply and form tumors.

The genetic change may happen for no known reason. Some children inherit the change from their biological parents. Healthcare providers may call this heritable or hereditary retinoblastoma. Children with hereditary retinoblastoma typically have it in both eyes.

Retinoblastoma has autosomal dominant inheritance. If both parents have the changed gene, there’s a 75% chance that their child will inherit it. If one parent has the gene, the chance drops to 50%.

Complications of retinoblastoma

Retinoblastoma complications include:

• Complete blindness or low vision: This can happen if cancer in your child’s retina spreads to other parts of their eye.
• Second cancer: Inheriting the genetic change that causes retinoblastoma increases the chance that your child will have another type of cancer. These may develop years after treatment.

How doctors diagnose retinoblastoma

Ophthalmologists or eye care specialists will do an eye examination. They’ll use medication that dilates your child’s pupil so they can look at the inside of your child’s eye. They may do imaging tests like:

• Ultrasound: This test may show calcium deposits that retinoblastoma causes.
• CT scan: Like an ultrasound, this test may spot calcium deposits.
• MRI test: This test lets providers see if the cancer has spread to your child’s brain.
• PET scan: Your child may have this test to check for cancer in other areas of their body.
• Genetic tests: The test will show if your child inherited the changed RB1 gene that causes retinoblastoma.

How is retinoblastoma treated?

There are several ways to treat retinoblastoma. Your child may have a combination of treatments, including:

• Chemotherapy: This is medication that kills cancer cells. This may be the only treatment your child needs. Or they may have chemotherapy before surgery to shrink a tumor.
• Laser therapy: Healthcare providers use a laser to destroy the blood vessels that supply blood to cancer cells.
• Cryotherapy: This treatment uses a probe that freezes and destroys cancer cells.
• Radiation therapy: Your child may have internal radiation therapy that targets the cancerous tumor.
• Thermotherapy: This treatment uses focused laser beams that heat and destroy cancer cells.
• Enucleation: This is surgery to remove the affected eye. Your child’s provider may recommend surgery if retinoblastoma causes vision loss.

When should I seek care?

Contact your child's pediatrician if you notice any signs of retinoblastoma or any changes in their eyes or vision. They’ll check your child’s eyes for issues like leukocoria. Diagnosing retinoblastoma early on may help protect your child’s vision. If your child has retinoblastoma, let their ophthalmologist know if they have new symptoms.

Talk to your healthcare provider if you or your partner has a biological family history of retinoblastoma or you know you have the RB1 gene mutation. You may want to consider genetic counseling before having children.

What’s the prognosis for retinoblastoma?

The prognosis for retinoblastoma is good. According to the American Cancer Society, treatment cures retinoblastoma in 9 out of 10 children with the disease. But your child will need regular eye exams and physical exams. Their ophthalmologist will look for signs that retinoblastoma has come back. Their pediatrician will check for any long-term side effects from cancer treatment.

Is there anything I can do to help my child feel better?

Your child may be a toddler when tests show they have retinoblastoma. They’ll be too little to understand what’s happening. But they’re likely to be upset and scared by all the changes in their life. Even if your child seems fine, it’s a good idea to talk to a child life specialist. They can help your child manage the stress that medical care can cause. They also offer emotional support to you and other family members.

Cancer treatment can cause side effects that may be hard on your child and on you. Your child’s healthcare team can recommend ways to ease side effects. More than that, they can help you and your child manage the stress of dealing with a serious disease like retinoblastoma.

Research shows retinoblastoma survivors often experience anxiety, especially during adolescence. Individuals who inherited the changed RB1 gene that causes retinoblastoma may worry about passing it on to their children. Adolescence is tough in the best of times. Talking to a counselor may help your child.