Retinoblastoma in Children
Overview
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
and
optic nerve, which allows sight. Retinoblastoma is the most common tumor affecting
the
eye in children. It almost always occurs in children less than 6 years old, with most
before age 2.
Causes
The cancer is caused by a change
(mutation) in the RB1 gene. It may be a gene passed down from parents (inherited).
Or it
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
cells
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
often
affects only one eye.
Symptoms
Symptoms may affect one 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 healthcare provider's
exam or in a flash photo.
-
Strabismus (lazy
eye).
This is when the eyes are misaligned. The eyes don’t move together or
look in the same direction.
Less common symptoms that occur
when the cancer is advanced may include:
- Pain, redness, or swelling of one or
both eyes
- Trouble seeing
- Bulging of the eye
- Different colored irises (colored area 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
- Vomiting
- Headache
- 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.
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:
-
Ocular
ultrasound.
This test uses sound waves to create images of the
eyes.
-
CT
scan.
A series of X-rays from different angles and a computer are used
to make detailed images.
-
MRI.
Large powerful magnets, radio waves, and a computer are used to make detailed
images.
-
Blood
tests.
Your child’s blood may be tested for signs of disease, and for
genetic changes.
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.
How is retinoblastoma staged?
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.
First, healthcare providers
determine if the retinoblastoma is intraocular or extraocular. Intraocular is cancer
that is in one or both eyes. It hasn't spread to other tissues or parts of the body.
Extraocular is cancer that spread to tissues around the eye or other parts of the
body.
If the cancer is intraocular,
healthcare providers use two standard staging systems for retinoblastoma:
- The newer system is called the International
Classification for Intraocular Retinoblastoma. It divides these tumors into
five groups lettered A through E. The groups are based on how likely it is that
the 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 intraocular 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
this.
Extraocular staging is used for retinoblastoma that has spread
outside of the eyes. Spreading may occur to local tissue around the eye, to the
central nervous system, the bone marrow, or lymph nodes. The stages are Stage 1 to
Stage IV.
Healthcare providers may use
other staging systems, such as the American Joint Commission on Cancer staging
system. The staging process for retinoblastoma can be very complex. Be sure to ask
your child's healthcare provider to explain the stage of your child's cancer.
Treatment
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
as:
- Ophthalmologist
- Pediatrician
- Pediatric surgeon
- Children’s cancer specialist
(pediatric oncologist)
- Retina specialist
- Specialist in using radiation therapy
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 bad the condition
is. It also depends on whether the retinoblastoma is hereditary.
Many of the treatment methods need
sleep medicine (anesthesia). Treatment may include the following:
-
Laser 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. Anticancer
medicines may be given into a vein (IV), by mouth, 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 therapy.
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 is placed and removed during
surgery. This may be used to treat some smaller tumors.
-
Thermotherapy. Laser
light is used to destroy cancer cells using heat. This may be used for some small
tumors. Or, it may be used with chemotherapy or radiation for larger tumors.
-
Cryotherapy. A tool is
used to freeze and kill the cancer cells.
-
Bone marrow or stem cell
transplantation.
This treatment is used for children with stage IV extraocular
retinoblastoma after high doses of chemotherapy, radiation therapy, or both.
-
Supportive
care.
Treatment can cause side effects. Medicines and other treatments can
be used for pain, fever, infection, and nausea and vomiting.
-
Clinical trials. 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
in mind:
- Getting medical treatment right away
is important for the best prognosis. Cancer that has spread may involve much more
treatment.
- Ongoing follow-up care during and after treatment is needed.
- New treatments are being tested to
improve outcome and to reduce side effects.
Complications
A child may have complications from the cancer or from treatment, such as:
- Detached retina
- Spreading of the cancer
(metastasis)
- Loss of eyesight
- Side effects of chemotherapy, such as
tiredness, bruising and bleeding, mouth sores, infections, vomiting, and
diarrhea
- Bleeding or infection from
surgery
- Growth of other cancers
Living with
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 reduce 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
will
treat any late effects of treatment and watch for signs or symptoms of the tumor growing
back. The healthcare providers will also keep track of your child with imaging and
other
types of tests.
Note: If your child has an implant and artificial eye, they
should wear protective eyewear during activities that may harm the eye.
Family members may want to see a genetic counselor to learn more about the risk for
retinoblastoma.
When to Call a Healthcare Provider
Call the healthcare provider or get
medical help right away if your child
has:
- Symptoms that get worse
- New symptoms
- Side effects from treatment
Key Points
- 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.
Next Steps
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
healthcare provider after office hours and on weekends and holidays. This is
important if your child becomes ill and you have questions or need advice.