Retinoblastoma (Children's Eye Cancer)

What Are Retinoblastomas?

Retinoblastoma is a pediatric cancer of the retina – the very back part of the eye that allows people to see color and light by converting light into a nerve signal to the brain - and is the most common eye cancer in children under five years old. It can occur in one eye (unilateral) or in both eyes (bilateral) and is typically found during routine eye exams of young babies and toddlers.

There are two types of retinoblastomas:

• Hereditary retinoblastomas (passed down in families, which is less common). Children with hereditary retinoblastomas are at an increased risk of developing other tumors and passing on the predisposition to some of their future children.
• Sporadic retinoblastomas (not hereditary or passed down in families, which is most common). Most children with sporadic retinoblastomas are not at risk of passing the disease to their future children and their risk for developing secondary cancers is much less than children with hereditary retinoblastomas.

Retinoblastomas are rare, with about 250–300 children diagnosed in the U.S. each year. They may become aggressive and spread (metastasize) into other areas of the body, including the brain and spine if detected late or untreated

For most children diagnosed with retinoblastomas, there is no family history of the disease

What Causes Retinoblastomas?

Retinoblastomas occurs when nerve cells in the retina possess very specific genetic mutations during development.  This mutation causes the cells to multiply forming a tumor.  The reasons the genetic mutations occur are not known and there is no proven method of preventing the disease. If the mutation is present in either sperm or egg – germline cells – the patient will have inherited the disease and consequently will have a 50% chance of passing that on to their children. Only one parent needs to have a single copy of the mutated gene to pass the increased risk of retinoblastoma on to the children.

Children with hereditary retinoblastoma tend to develop the disease at an earlier age and they tend to occur in both (bilateral) eyes since mutation is in all the cells of both eyes.  If a child has been diagnosed with a retinoblastoma, the examining physician should order genetic testing for the patient and possibly for the patient’s family to assess inheritance.

In sporadic retinoblastoma, the genetic mutation happens sometime after conception and therefore most if not almost all the cells in the eye are normal. In this case, the tumor tends to be detected after the age of 1 year and usually only in one eye.

What Are the Signs & Symptoms of Retinoblastoma?

Parents may notice one or more of the following:

• A white color to the pupil (the central portion of the eye that is usually black), especially with flash photography (as opposed to the red pupil that is often seen)
• A misaligned or “lazy eye” (that may turn outward or inward when the child is looking straight ahead)
• Vision problems
• Red or irritated eyea

The risk of developing retinoblastomas is greatest during a child’s first five years.

How Are Retinoblastomas Diagnosed?

Currently, there are no widely recommended screening tests for retinoblastoma. They are typically found during a child’s routine physical exam by a pediatrician who will look for:

• Changes to the physical appearance of the eyes,
• Changes to how the eyes move, and
• Changes to the child’s vision.

If a physician finds something suspicious, it is critical that they place an immediate referral for evaluation by an ophthalmologist. The pediatric ophthalmologist will examine the patient and if the suspicion for retinoblastoma is confirmed, they will then proceed to an examination under anesthesia as well as requesting imaging studies such as a magnetic resonance imaging (MRI) of the eye and brain, Genetic studies will also be ordered.

Sometimes, a parent or relative might notice that a young child’s eye doesn’t look normal, and it will prompt a visit to the doctor. It’s important for parents to be aware of the possible signs and symptoms of retinoblastoma, and to report anything unusual to the doctor as soon as possible. Most often the cause is something other than retinoblastoma, but it’s important to have it checked so that the cause can be found and treated right away.

How Are Retinoblastomas Treated?

Almost all patients with retinoblastoma can be cured, especially if the disease is confined to the eyes. However, if left untreated, it can spread to other parts of the body most often the brain where the cancer becomes much harder to treat.

At Lurie Children’s Hospital, we have a comprehensive and advanced program for Retinoblastoma. Our team consists of oncologists, neuro-interventional radiologists and ophthalmologists specializing in pediatrics, retina diseases and eye cancers. We provide every possible treatment modality including advanced intra-arterial chemotherapy where our neurointerventional radiology physicians treat retinoblastomas by injecting high dose chemotherapy directly to the tumor through a tiny tube (called a catheter) advanced from the leg artery (under x-ray guidance) to the artery supplying blood to the eye. 

What Are the Long-Term Effects of Retinoblastomas?

Patients with retinoblastoma, particularly the hereditary type, have an increased risk of developing other types of cancers in other parts of the body in the years after treatment – including certain types of brain tumors and the development of additional retinoblastomas. For this reason, it is crucial for children with inherited retinoblastomas to be screened regularly for other cancers.