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Retinoblastoma
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Retinoblastoma

Retinoblastoma is a rare childhood eye cancer originating in the retina that is highly curable when diagnosed early but can be life-threatening if left untreated.

Overview & Symptoms

Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. The cancer develops in the retina, the specialized light-sensitive tissue at the back of the eye that detects light and color.

While the disease often affects only one eye, one out of three children with retinoblastoma develops cancer in both eyes. Signs and symptoms include:

  • A visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is especially noticeable in dim light or flash photographs
  • Crossed eyes or eyes that do not point in the same direction (strabismus), which can cause squinting
  • A change in the color of the iris
  • Redness, soreness, or swelling of the eyelids
  • Blindness or poor vision in the affected eye or eyes

If not treated promptly, this cancer can spread beyond the eye to other parts of the body, becoming life-threatening. When associated with a genetic mutation in all of the body's cells, it is known as hereditary retinoblastoma. Individuals with this form typically develop cancer in both eyes and face an increased risk of other cancers, including pineal gland tumors (pineoblastoma), bone cancer (osteosarcoma), soft tissue sarcomas, and skin cancer (melanoma).

Frequency

Retinoblastoma is diagnosed in 250 to 350 children per year in the United States, accounting for about 4 percent of all cancers in children younger than 15 years.

Causes & Genetics

Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene that normally regulates cell growth and division. Most mutations prevent the gene from making functional protein, allowing retinal cells to divide uncontrollably and form a tumor.

A small percentage of cases are caused by deletions in the region of chromosome 13 that contains the RB1 gene. Because these deletions involve multiple genes, affected children usually also experience intellectual disability, slow growth, and distinctive facial features (such as prominent eyebrows, a short nose with a broad nasal bridge, and ear abnormalities).

Associated Genes and Chromosomes

  • MYCN
  • RB1
  • chromosome 13

Inheritance Pattern

Approximately one-third of all retinoblastomas are hereditary, meaning the RB1 mutation is present in all of the body's cells, including reproductive cells. The remaining two-thirds are non-hereditary, meaning mutations occur only in the cells of the eye and cannot be passed to the next generation.

In hereditary retinoblastoma, the predisposition is inherited in an autosomal dominant pattern, meaning one mutated copy of the gene is sufficient to increase cancer risk. This copy can be inherited from an affected parent or result from a new mutation during early development. For the cancer to actually develop, a second mutation involving the other copy of the RB1 gene must occur in retinal cells during the person's lifetime, typically during childhood.

In non-hereditary retinoblastoma, individuals are born with two normal copies of the gene, but both copies in certain retinal cells acquire mutations during early childhood. Typically, only one eye is affected, and there is no family history of the disease.

Other Names for This Condition

  • Glioma, retinal
  • RB

Frequently Asked Questions

If a child is diagnosed with hereditary retinoblastoma (mutations in all cells), there is a 50% chance of passing the RB1 mutation to each child. Genetic counseling can provide risk assessment, discuss prenatal testing (amniocentesis or chorionic villus sampling), and offer pre‑implantation genetic diagnosis (PGD) for families using assisted reproduction. Counseling also covers surveillance for secondary cancers and the importance of lifelong monitoring.
The classic sign is leukocoria, a white or yellowish reflection in the pupil seen in photographs or when looking at a bright light. Parents should also watch for strabismus (crossed or misaligned eyes), sudden changes in eye color, redness or swelling of the eyelids, and any loss of vision or eye pain. If any of these occur, a prompt ophthalmologic evaluation is essential.
Staging is based on the International Intra‑ocular Retinoblastoma Classification (IIRC) and considers tumor size, location, and extent of spread. Stage A tumors are small and peripheral, often treated with focal laser or cryotherapy. Stage B and C involve larger or more central tumors and may require systemic chemotherapy or intra‑arterial chemotherapy. Stage D indicates extra‑ocular spread, usually necessitating enucleation (removal of the eye) and possibly external beam radiation. The stage determines whether eye‑preserving therapies are feasible or if more aggressive treatment is needed.
fter treatment, patients need regular ophthalmologic exams—typically every 3–6 months for the first 2–3 years, then annually. Imaging (MRI or CT) may be used if there is concern for extra‑ocular disease. For hereditary cases, whole‑body screening for secondary tumors (e.g., bone, soft tissue, melanoma) is recommended, often involving periodic physical exams, imaging, and dermatologic checks. Early detection of recurrence or new cancers improves outcomes.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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