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Retinoblastoma Program

Phoenix Children’s is one of only a few pediatric hospitals in the U.S. staffed and equipped to effectively screen, diagnose and treat retinoblastoma — a rare type of eye cancer that affects about 250-350 children throughout the country each year.

Recent Clinical Publication: Multidisciplinary Management of Retinoblastoma: Diagnosis – Practice Update

According to the American Cancer Society, retinoblastoma is the most common type of eye cancer in children. This particular cancer forms in the retina, the light-sensitive part of the eye. Accounting for about 4% of all childhood cancers, retinoblastoma mostly occurs in infants and young children — five years and younger.

At Phoenix Children’s, we offer a comprehensive Retinoblastoma Program designed to effectively detect, diagnose and treat retinoblastoma at its earliest stages to preserve vision and provide children the best possible outcomes.

Leaders in Retinoblastoma Care

Phoenix Children’s Retinoblastoma Program is staffed with fellowship-trained, board-certified pediatric ophthalmologists. These leaders in retinoblastoma care are experts in ocular, pediatric and general oncology, interventional radiology and genetics — all working together to provide high-quality coordinated care to children and their families.

In addition to providing care for retinoblastoma, our team treats children with other cancer-related eye conditions and noncancerous eye tumors. These include:

  • Conjunctival nevus: A mole-type growth on the white part of the eye
  • Iris cysts: Benign (noncancerous) fluid-filled cysts in the iris (the colored part of the eye) that can disrupt vision
  • Neurofibromatosis: A multiorgan disease that can cause a tumor on the eye called optic nerve glioma
  • Medulloepithelioma: A rare tumor in the middle layer of the eye (uvea)
  • Systemic cancers: Cancers, like leukemia and lymphoma, that spread to the eyes 
  • Tuberous sclerosis: A disorder that can cause benign tumors, called astrocytomas, in the retina that can cause vision changes
  • Von Hippel Lindau syndrome: A disorder that causes benign tumors, called capillary hemangiomas, in the eye, which can lead to detachment of the retina and permanent vision changes

What Is Retinoblastoma?

Retinoblastoma is a tumor in the eye’s retina. The retina is the back part of the eye that helps you detect light and color.

Retinoblastoma, though rare, is the most common type of eye cancer in children. The disease typically affects children under the age of 5. Diagnosis for most children with retinoblastoma occurs between 12 and 18 months of age.

Without proper treatment, retinoblastoma can lead to blindness. Advanced retinoblastoma can also spread cancer to other parts of the body.

What Causes Retinoblastoma?

Retinoblastoma is caused by a change in a gene during eye development. This gene change causes retina cells to grow uncontrollably.

While some children who get retinoblastoma have a family history of the disease, most do not.

For the majority of children with retinoblastoma, only one eye is affected. Children with this type of retinoblastoma, called “sporadic,” are not at increased risk for other cancers.

In a smaller number of children with retinoblastoma, the gene change affecting retina cells is present in cells throughout the body. For these children, retinoblastoma presents at an earlier age. In about a quarter of these cases, retinoblastoma affects both eyes. Children with this form of retinoblastoma are also at increased risk for other cancers.

What Are the Symptoms of Retinoblastoma?

A common symptom of retinoblastoma is a white glow or reflection in the pupil. Parents of children with retinoblastoma are often the first to notice this symptom because it shows up in flash photography.

Children with retinoblastoma can also develop strabismus (lazy eye).

Other less common symptoms of retinoblastoma include:

  • Eye bulging
  • Eye pain, redness or swelling
  • A pupil or pupils that don’t change in size when exposed to light
  • Vision changes

Because the symptoms of retinoblastoma are similar to symptoms of other conditions, it’s important to visit your health care provider for the right diagnosis.

How Is Retinoblastoma Diagnosed?

If your child’s doctor or ophthalmologist suspects retinoblastoma, they will refer you to an ocular oncologist. Ocular oncologists specialize in treating eye cancers.

Your child’s ocular oncologist will perform tests to confirm a retinoblastoma diagnosis.

Examining the eyes of small children is tough to do. Because of this, some tests for retinoblastoma require your child to have anesthesia.

Your doctor at Phoenix Children’s will work alongside experts from our Child Life Program to help your child with any fears they may have about tests or procedures.

Diagnostic tests for retinoblastoma include:

  • Ocular ultrasound. This test uses sound waves to view the eyes. 
  • Fluorescein angiography. This test uses a fluorescent dye to look at blood vessels in the eye.
  • Optical coherence tomography (OCT) scan. This test uses a special light to scan the retina layer by layer to look for changes.
  • Magnetic resonance imaging (MRI). In rare cases, a brain tumor can be associated with your child’s retinoblastoma. Your doctor will order an MRI at the time of diagnosis. MRIs use large magnets, radio waves and a computer to make detailed images.

Screening for Retinoblastoma

The sooner retinoblastoma is detected, the more effectively we can treat the disease. Phoenix Children’s offers a wide range of screening options designed to detect retinoblastoma in its earliest stages.

Prenatal Screening

If a mother or other immediate family member has been diagnosed with retinoblastoma or any type of related eye cancer, Phoenix Children’s offers a variety of prenatal screenings options that detect heritable retinoblastoma:

  • Preimplantation Testing
    Preventing cancer is always better than having to overcome it. With preimplantation testing, parents who have been diagnosed with retinoblastoma can achieve a healthy pregnancy without risk of their newborn contracting the disease. Using in vitro fertilization (IVF), Phoenix Children’s specialists conduct genetic testing to ensure that only unaffected embryos are transferred to the uterus.
  • Early Pregnancy Testing
    Testing for retinoblastoma is also effective in early stages of pregnancy. The most important gene in retinoblastoma is the RB1 tumor suppressor gene, which helps stop cells from growing too quickly. During the early stages of pregnancy, a fetus may be tested for a missing or mutated RB1 gene. The enables our specialized team to offer effective treatment before the baby is born.
  • Late Pregnancy Testing
    In later stages of pregnancy, retinoblastoma can be detected via an ocular ultrasound. At Phoenix Children’s, ophthalmology specialists use ultrasound technology, which uses high-frequency sound waves to capture live images of the fetus’ eyes, to test for and treat retinoblastoma beginning at 32 weeks gestation. If a retinoblastoma is diagnosed by ultrasound, a fetal MRI is performed at 34 weeks to rule out additional tumor(s) in other parts of the brain (trilateral retinoblastoma).

Retinoblastoma Screenings for Young Children

In addition to prenatal testing, Phoenix Children’s offers different retinoblastoma screening options for newborns and young children. Should you or your child’s pediatrician suspect retinoblastoma, Phoenix Children’s specialized ophthalmology team can accurately detect and diagnose the disease using a variety of proven methods, including blood tests, in-depth eye exams and high-resolution diagnostic imaging like ultrasound and MRI.

Based on test results, our expert team can determine if retinoblastoma is present, whether one or both eyes are affected, and if the disease is contained or has spread beyond the eye(s). From there, our team will put together an effective treatment plan tailored to the child’s needs.

How Is Retinoblastoma Treated?

At Phoenix Children’s, our expert team of specialists have extensive experience in effectively treating retinoblastoma. Our ultimate goal is to provide the most comprehensive retinoblastoma care to preserve a child’s vision and offer the best possible outcome.

Treatment options depend on each child’s symptoms, age, general health and the severity of the condition.

Prenatal Treatments

Phoenix Children’s offers two types of targeted chemotherapy to prenatally treat retinoblastoma while minimizing toxicity to the rest of the baby’s body:

  • Intra-arterial Chemotherapy
    Specialists administer medication into the ophthalmic artery, which supplies blood to the back of the eye.
  • Intravitreal Chemotherapy
    This type of therapy involves injecting anticancer medication directly into the affected eye.

Postnatal Treatments

For infants and young children, Phoenix Children’s offers a variety of options to effectively treat retinoblastoma.

  • Chemotherapy
    Depending on a child’s needs, anticancer medicines may be given intravenously (IV), by mouth or directly into the artery that supplies blood to the eye. These medicines are designed to reduce the size of the tumor so other treatments can work better.
  • Radiation Therapy
    For advanced cases of retinoblastoma, radiation therapy may be an effective option. Using high energy X-rays or particles, radiation beams are aimed at the tumor from several angles to deliver radiation directly to the tumor.
  • Laser Therapy or Thermo Therapy
    Expert specialists use high-intensity light or heat to coagulate (thicken) and destroy the cancerous tissue within the retina.
  • Cryotherapy
    On the opposite spectrum, cryotherapy delivers extreme cold via a small metal probe to freeze and kill cancerous cells in the retina. Cryotherapy is most effective in treating small retinoblastoma tumors located near the front of the eye.
  • Surgery
    For the most extreme cases of retinoblastoma, surgery may be required to replace a child’s affected eye and eye socket with an implant and artificial eye.

No matter what type of retinoblastoma treatment a child receives, follow-up screenings may be needed to ensure that treatment has been totally effective. Children will also undergo routine eye exams and cancer screenings as they grow up and become adults.

Additional Resources

Learning that your soon-to-be born baby, infant or child has cancer is extremely frightening for parents. Phoenix Children’s multidisciplinary clinical staff and support teams are here to offer support for your child and family in every way we can.

  • Genetic Counseling
    Phoenix Children’s Genetics and Metabolism Department is the only one of its kind in Arizona, offering thorough evaluation, diagnostic, treatment and follow-up services for families with children with known or suspected genetic conditions, like retinoblastoma. Learn more.
  • Prenatal and Postnatal Palliative Care
    Phoenix Children’s offers palliative care services for families coping with serious, life-threatening and life-limiting conditions like cancer. Our multidisciplinary team is here to provide compassionate guidance, support and comfort during difficult times of uncertainty, concern and grief. Learn more.
  • Child Life Program
    At Phoenix Children’s, our Child Life specialists work closely with family members and patients during hospitalization to attend to each child’s developmental, psychosocial, educational and emotional needs — which can be critical in the treatment and healing process. Learn more.
  • Pastoral and Social Services
    Phoenix Children’s specially-trained Patient and Family Services team offers patients and family members the emotional, physical and spiritual support they may need during the treatment and recovery process. Learn more.
  • Psychology Services
    Phoenix Children’s has a dedicated team of psychologists that collaborates with our multidisciplinary medical staff to take a holistic approach to patient care and family services. Special attention is given to the developmental, emotional and behavioral needs of our patients and their family too. Learn more.

What to Expect at Phoenix Children’s

  • Kids are our focus at Phoenix Children’s. Here, you and your child will be met with a compassionate team of experts — all trained to care for childhood disease.
  • Our ophthalmology RN Kimberly coordinates care for all our ocular oncology patients. She is your first point of contact for referrals and clinical questions. She completes intake from outside referring facilities, ensures all treatments and results are received at proper intervals, and assists in letter writing including for charitable flight organizations.  
  • Our surgery scheduler Kristy schedules all exams under anesthesia, while working with other departments to combine procedures while the patients are under anesthesia. She arranges Ronald McDonald House accommodations for out of state patients and for Arizona families that live greater than 30 miles from the hospital. 
  • Ronald McDonald House Charities of Central and Northern Arizona offers two nearby Ronald McDonald House locations for the families of children in our care. To be eligible to stay, you must live more than 30 miles from Phoenix Children’s. 
  • Because we are one of only a few pediatric hospitals in the U.S. equipped to comprehensively treat retinoblastoma, many of our patients travel for care.
  • Phoenix Children’s Hospital works with charitable flight organizations for out of state patients. Air Care Alliance has general information and contact information for these organizations. Families have an application process to see if they are eligible. If eligible Kimberly provides required documentation of upcoming treatment to families and these flight organizations.

Additional Resources for Families 

For patients and families who many need additional support as they face challenges associated with managing this health condition, Phoenix Children’s offers a wide range of support services, such as genetic counseling, prenatal and postnatal palliative care, pastoral care, psychology services, social services and more. Read more.

Contact Us

At Phoenix Children’s, our experienced multidisciplinary team is here to help you and your child in the fight against retinoblastoma. For more information or to schedule an appointment at Phoenix Children’s, please call 602-933-EYES (3937).

What You Need to Know About Pediatric Retinoblastoma

By Dr. Aparna Ramasubramanian, medical director of the Retinoblastoma Program at Phoenix Children’s

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