What Is Retinoblastoma?

Retinoblastoma is the most common malignant (cancerous) eye tumor in children, though it is still considered relatively rare. It develops in the retina, the light-sensitive layer of nerve tissue at the back of the eye that sends visual signals to the brain. The cancer can affect one or both eyes and, if left untreated, may lead to blindness or spread to other parts of the body, becoming life-threatening.

Retinoblastoma most often occurs in children from birth to age 5. It is caused by a mutation in the RB1 gene, which normally helps regulate cell growth in the retina. This mutation may be inherited or occur spontaneously during early development. The condition affects children of all races and genders and is not associated with diet, infection, vaccines or environmental exposures.

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What Are the Signs and Symptoms of Retinoblastoma?

Retinoblastoma is often first detected when a caregiver notices something unusual about the child’s eye. Common signs and symptoms include:

  • Leukocoria – a white glow in the pupil, often seen in flash photographs
  • Strabismus – crossed or misaligned eyes
  • Eye redness, pain or swelling
  • Poor or decreased vision
  • Enlarged or irregular-shaped pupil

Any of these signs should be evaluated promptly by a pediatric ophthalmologist or ocular oncologist.

How Is Retinoblastoma Diagnosed?

Retinoblastoma is often first suspected when a white reflection, called leukocoria, is noticed in a child’s eye often appearing in flash photographs as a white pupil instead of the typical red-eye effect. Other signs may include eye redness or pain, strabismus (misaligned or "lazy" eye) or decreased vision. Any child with these symptoms should be promptly evaluated by a pediatric ophthalmologist or ocular oncologist.

Diagnosis typically begins with a comprehensive physical and eye exam, followed by imaging studies to determine the size, location and extent of the tumor. These tests may include:

  • Retinal exam under anesthesia – Allows detailed inspection of the retina
  • Ocular ultrasound – Helps visualize internal structures of the eye
  • MRI – Assesses potential spread beyond the eye to the brain or nearby tissues
  • Fundus photography – Captures detailed images of the back of the eye

Many of these procedures are performed while the child is under anesthesia for accuracy and comfort. Children are also evaluated for genetic mutations, including changes in the RB1 gene, and may undergo additional testing to screen for other related tumors.

How Is Retinoblastoma Treated?

Treatment for retinoblastoma depends on the size, location and extent of the tumor, as well as whether one or both eyes are affected. The primary goals are to save the child’s life, preserve vision when possible and minimize treatment-related side effects.

Treatment options may include:

  • Chemotherapy
    • Intra-arterial: Delivers chemotherapy directly into the artery supplying the eye, allowing for high-dose treatment with fewer systemic side effects. This technique has revolutionized retinoblastoma care by improving eye-salvage rates.
    • Intravitreal: Injected directly into the eye to treat tumors and prevent recurrence.
    • Systemic (intravenous): Circulates through the bloodstream to treat both eyes or metastatic disease.
    • Periocular: Injected around the eye to boost local effectiveness.
  • Focal therapies
    • Laser therapy: Targets and shrinks small tumors using heat.
    • Cryotherapy: Freezes and destroys cancer cells.
    • Plaque radiotherapy: Uses a small radiation source placed on the outside of the eye near the tumor.
  • Surgery
    • Enucleation: Surgical removal of the eye in cases where the tumor is large or vision cannot be preserved.

Because retinoblastoma is rare, affecting only about 250 to 350 children annually in the U.S., it requires treatment from physicians with highly specialized skills. Children’s Memorial Hermann Hospital provides access to affiliated physicians who are not only trained in the latest treatment techniques, including intra-arterial chemotherapy, but are also actively involved in research to develop new therapies for cases that do not respond to conventional treatment.

What Is the Long-term Outlook for Children with Retinoblastoma?

With early detection and specialized care, many children with retinoblastoma are cured and go on to lead full, healthy lives. Long-term outcomes depend on whether the cancer is confined to the eye and how well it responds to treatment.

Some children, particularly those with inherited forms of the disease, may face an increased risk of developing other cancers later in life, such as osteosarcoma, soft tissue sarcomas, brain tumors and melanomas. For this reason, lifelong follow-up with an ocular oncologist and other specialists is essential.

Ongoing monitoring and support may include:

  • Regular eye exams and imaging
  • Genetic counseling and testing
  • Cancer screening protocols
  • Psychosocial and developmental support

Why Choose Children’s Memorial Hermann Hospital?

At Children’s Memorial Hermann Hospital, families have access to specialized care in a compassionate, child- and family-focused environment. Our team partners with affiliated specialists at McGovern Medical School at UTHealth Houston as well as private practices through a collaborative approach that combines advanced treatments, leading-edge research and long-term follow-up.

Whether your child is newly diagnosed or seeking care for recurrent disease, the team is here to guide and support you and your family throughout the care journey.

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