Retinoblastoma in Children
Retinoblastoma is a rare cancer of
the retina of the eye. The retina is a group of special nerve cells sensitive to light
located in the back of the eye. These light sensing cells are connected to the brain
optic nerve, which allows sight. Retinoblastoma is the most common tumor affecting
eye in children. It almost always occurs in children less than 6 years old.
The cancer is caused by a change
(mutation) in the RB1 gene. It may be a gene passed down from parents (inherited).
may be a gene change that happens by chance (sporadic).
In 1 out of 3 children with
retinoblastoma, it’s present at birth (congenital), and the gene change is in all
in the body. This is known as hereditary retinoblastoma. In this form, the
retinoblastoma usually affects both eyes. It also increases the risk of other cancers
such as sarcoma and melanoma.
In 2 out of 3 children with
retinoblastoma, they have no increased risk for other cancers. In these cases, it
affects only one eye.
Symptoms may affect 1 or both eyes.
Symptoms can occur a bit differently in each child. They can include:
Leukocoria. This is an abnormal white reflection from the retina of
the eye. The dark center part of the eye (pupil) actually looks white. This may only
be seen during a doctor's exam or in a flash photo.
This is when the eyes are misaligned. The eyes don’t move
together or look in the same direction.
Less common symptoms may include:
- Pain, redness, or swelling of 1 or
- Trouble seeing
- Bulging of the eye
Most of the time, retinoblastoma has not spread (metastasized) to other areas of the
body when it’s diagnosed. If it has spread, other symptoms may include:
- Loss of appetite
- Weight loss
- Neurologic problems such as weakness, numbness, and trouble with movement
- Lump (mass)
The symptoms of retinoblastoma can be like other health conditions. Make sure your
child sees a healthcare provider for a diagnosis.
Your child's healthcare provider
will ask about your child's health history and symptoms. They will examine your child
and pay close attention to the eyes. The healthcare provider will likely advise that
your child see an eye specialist (ophthalmologist).
The ophthalmologist will check your child's eyes with special tools. Your child may
need a dilated indirect ophthalmoscopic exam. Your child may be given anesthesia medicine
to sleep through the exam.
Your child may need other tests such as:
This test uses sound waves to create images of the
A series of X-rays and a computer are used to make detailed
MRI.Large magnets, radio waves, and a computer are used to make detailed
Your child’s blood may be tested for signs of disease, and for
A child may be diagnosed with no symptoms. This may be the case if you have a family
history of retinoblastoma. Your child may have eye exams often to check for signs
of the cancer.
After a diagnosis of
retinoblastoma, these tests will help your child's healthcare provider know if the
cancer is inside the eye, how much of the eye is involved, and if it has spread beyond
the eye. This process is called staging. The stage of a cancer is one of the most
important things to know when deciding how to treat it. Doctors use 2 standard staging
systems for retinoblastoma.
The newer system is called the
International Classification for Intraocular Retinoblastoma. It divides these tumors
into 5 groups lettered A through E. The groups are based on how likely it is that
eye can be saved. Group A means the tumor is small and not near important structures
that allow your child to see. These tumors can likely be removed and vision can be
saved. The higher the group, the more advanced the tumor is. A tumor in Group E means
that healthcare providers have little to no chance of saving the eye. The other groups
then fall between these extremes.
The Reese-Ellsworth system is older and less commonly used. It groups retinoblastomas
much like the International Classification system, based on whether the eye and vision
can be saved. The system uses groups numbered 1 through 5. Group 1 means a good chance
of saving the eye, and Group 5 means it's not likely. The other groups fall between
Doctors may use other staging
systems. The staging process for retinoblastoma can be very complex. Be sure to ask
child's healthcare provider to explain the stage of your child's cancer
Most children in the U.S. with
retinoblastoma have a good chance of recovery.
Your child will be treated by a team of different types of healthcare providers, such
- Pediatric Surgeon
- Children’s cancer specialist
- Retina specialist
- Specialist in using radiation to treat
cancer (radiation oncologist)
- Rehabilitation specialist
- Pediatric nurse specialist
Treatment will depend on your child’s symptoms, age, and general health. It will also
depend on how severe the condition is. It also depends on whether the retinoblastoma
Many of the treatment methods require sleep medicine (anesthesia). Treatment may include
therapy or photocoagulation.
A laser is used to destroy the blood
supply to the tumor. This is used on some smaller tumors.
Surgery. In some cases, surgery may be done to remove the eye. This is
called enucleation. This is not needed for all retinoblastomas. They eye socket and
eye are replaced with an implant and artificial eye.
Chemotherapy. Anti-cancer medicines may be given into a vein (IV), by
mouth (systemic), or directly into an artery that feeds the eye. The medicines may
reduce the size of the tumor so that other treatments can work better.
Radiation may be used when another treatment doesn’t work
well enough. Internal radiation (brachytherapy) may be done. A small container
(plaque) with radioactive material is placed on the eye near the tumor. The plaque
placed and removed during surgery. This may be used to treat some smaller
Thermotherapy. Laser light is used to destroy cancer cells. This may
be used for some small tumors. Or, it may be used with chemotherapy or radiation for
Cryotherapy. A tool is used to freeze and kill the cancer cells.
Treatment can cause side effects. Medicines and other
treatments can be used for pain, fever, infection, and nausea and vomiting.
Ask your child's healthcare provider if there are any
treatments being tested that may work well for your child.
With any cancer, how well a child is expected to recover (prognosis) varies. Keep
- Getting medical treatment right away
is important for the best prognosis. Cancer that has spread may involve much more
- Ongoing follow-up care during and after treatment is needed.
- New treatments are being tested to improve outcome and to lessen side effects.
A child may have complications from the cancer or from treatment, such as:
- Detached retina
- Spreading of the cancer
- Loss of eyesight
- Side effects of chemotherapy such as
tiredness, bruising and bleeding, mouth sores, infections, vomiting, and
- Bleeding or infection from
- Growth of other cancers
You can help your child manage
their treatment in many ways. For example:
- Your child may have trouble eating. A dietitian may be able to help.
- Your child may be very tired. They
will need to balance rest and activity. Encourage your child to get some exercise.
This is good for overall health. And it may help to lessen tiredness.
- Get emotional support for your child.
Find a counselor or child support group.
- Make sure your child attends all follow-up appointments.
A child with retinoblastoma needs
ongoing care. Your child will be cared for by a team of healthcare providers. They
treat any late effects of treatment and to watch for signs or symptoms of the tumor
growing back. The healthcare providers will also monitor your child with imaging
other types of tests.
Note: If your child has an implant and
artificial eye, they should wear protective eyewear during activities that may harm
Family members may want to see a genetic counselor to learn more about the risk for
When to Call a Healthcare Provider
Call the healthcare provider or get
medical help right away if your child
- Symptoms that get worse
- New symptoms
- Side effects from treatment
- Retinoblastoma is a rare cancer of the
retina of the eye. The retina is a specialized group of nerve cells located in the
back of the eye. These light sensing cells are connected to the brain and optic nerve
which allows sight.
- The cancer may be passed on from parents (inherited) or it may occur by chance (sporadic).
- The most common symptoms are an abnormal white reflection from the retina (leukocoria)
and misaligned eyes (strabismus).
- It’s diagnosed by a dilated indirect ophthalmoscopic exam.
- In the U.S., the prognosis for most children with retinoblastoma is very good.
- There are many treatments for retinoblastoma including surgery, chemotherapy, radiation
therapy, laser therapy, and cryotherapy.
Tips to help you get the most from a visit to your child’s healthcare provider:
- Know the reason for the visit and what you want to happen.
- Before your visit, write down questions you want answered.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments,
or tests. Also write down any new instructions your provider gives you for your child.
- Know why a new medicine or treatment is prescribed and how it will help your child.
Also know what the side effects are.
- Ask if your child’s condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if your child does not take the medicine or have the test or procedure.
- If your child has a follow-up appointment, write down the date, time, and purpose
for that visit.
- Know how you can contact your child’s provider after office hours. This is important
if your child becomes ill and you have questions or need advice.