Hereditary Retinoblastoma (RB1)
Hereditary retinoblastoma is a genetic condition that increases the risk of certain cancers. Learn more here.
What is hereditary retinoblastoma?
Hereditary retinoblastoma is a condition that increases risk of several types of cancer. These include retinoblastoma (cancer of the retina in the back of the eye), brain tumors, sarcomas (cancers of the bone and soft tissues), and melanoma skin cancer.
Signs and symptoms of hereditary retinoblastoma
Hereditary retinoblastoma is most often diagnosed when a tumor in the eye (or both eyes) is found, often before age 1. It is more commonly diagnosed in children who have tumors in both eyes or those with a parent or sibling with retinoblastoma. A diagnosis of hereditary retinoblastoma requires gene testing (see below). Non-hereditary retinoblastoma is also often diagnosed in the same way but affects only one eye and may be found in older children compared to the hereditary form.
Signs of retinoblastoma before symptoms occur
A test called the red reflex test is done as part of routine well-child visits. This allows doctors to find some retinoblastomas and other eye problems early. To check for retinoblastoma, a doctor shines a light in the child’s eye to see if the light reflects red, which is normal, or white, which is called leukocoria. Leukocoria can be a sign of a tumor in the eye. If leukocoria is found, a more detailed exam will be done by an eye specialist.
Symptoms of retinoblastoma
Sometimes, symptoms in a young child may lead to a doctor visit where a retinoblastoma tumor is found. Symptoms from retinoblastoma may include:
- Changes in how the eyes look or line up with each other
- Changes in how the eyes move
- Changes in the child’s vision
Any of these might be a sign of retinoblastoma, although they are more often caused by something else. Learn more in Signs and Symptoms of Retinoblastoma.
What causes hereditary retinoblastoma?
Hereditary retinoblastoma is caused by changes in the RB1 gene. This gene normally works as a tumor suppressor gene, controlling how cells grow and divide. When the RB1 gene is changed, or mutated, this causes cells to grow out of control, which can lead to cancer.
Inherited gene changes in RB1 are most likely in children with:
- A family history of retinoblastoma
- Newly diagnosed retinoblastoma affecting both eyes (bilateral)
- Newly diagnosed multifocal (multiple tumors in one eye) retinoblastoma
For most children with hereditary retinoblastoma, this gene change occurs by chance early in development before birth. This means cells throughout their body have the RB1 gene change and, often, no other people in their family have retinoblastoma. Less often, a child will inherit a gene change in RB1 from a parent.
Children with non-hereditary retinoblastoma only have RB1 gene changes in the tumor cells, and the mutation happens later in development. Gene changes affecting only the tumor cells cannot be passed on to future children.
13q deletion syndrome
For some children, the RB1 gene is lost when part of chromosome 13 is deleted or lost (13q deletion syndrome). In children with this condition, other symptoms might be present, like:
- Trouble feeding due to low muscle tone
- Heart problems
- Small heads, wide-spaced eyes, and/or a small jaw
- Slow or stunted growth
- Delays in developing skills like crawling, walking, or speaking
- Trouble learning
Most children with hereditary retinoblastoma do not have these other health problems.
How common is hereditary retinoblastoma?
4 out of 10 children with retinoblastoma have heritable changes in the RB1 gene. Most of these have no family history of retinoblastoma.
Almost all cases of bilateral retinoblastoma (cancer in both eyes) and about 1 in 4 cases of unilateral (cancer in one eye) retinoblastoma are found to have heritable gene changes.
How is hereditary retinoblastoma diagnosed?
Hereditary retinoblastoma is diagnosed with gene testing. Gene testing can be done on:
- Blood
- Cheek swabs
- Saliva
Doctors look for changes in the RB1 gene in these samples, which can confirm a diagnosis of heritable retinoblastoma. Their siblings may also be recommended for testing and screening for retinoblastoma if RB1 gene changes are found.
Does hereditary retinoblastoma increase a person’s cancer risk?
Yes, hereditary retinoblastoma increases a person’s risk for developing certain cancers. Speaking with your doctor about any new symptoms may allow a tumor to be found early, when treatment is more likely to be successful.
Retinoblastoma is very common in people with heritable RB1 mutations. It occurs in 9 of 10 people with RB1 gene changes. Frequent eye exams to find new or recurrent tumors in the eyes early, when they are easier to treat, are recommended.
Children with heritable retinoblastoma are more likely to develop brain tumors in the pineal gland (called pineoblastomas) or other areas near the middle of the brain. These tumors are most common in the first few years of life. Doctors recommend MRI imaging tests of the brain to catch these tumors early, when they may be easier to treat.
Sarcomas, or soft tissue and bone tumors, are more likely to develop in people with hereditary retinoblastoma. Radiation treatment increases this risk and should be avoided when possible. Having a physical exam at least once a year and seeing a doctor for any new symptoms to find a cause may help find these tumors early. Talk to your health care provider about any other tests they might recommend to find sarcomas early.
Melanoma is a form of skin cancer. Any new mole or skin spot that has an odd shape, color, or border, or is growing or changing, should be examined by a dermatologist. As part of routine health care, people with hereditary retinoblastoma should have a skin exam at least once a year. This can be done by a primary care doctor (your pediatrician, internist, or family physician) or a dermatologist, a skin specialist.
People with hereditary retinoblastoma may have a higher risk of other cancers. Adults with this condition should have routine colon, breast, cervical, prostate, and lung cancer screening, as recommended in the general population.
Management of hereditary retinoblastoma
In infants and young children with hereditary retinoblastoma, the following tests are recommended:
- Regular eye screening exams with or without sedation (medications to keep the child calm and asleep during the exam)
- Birth: first unsedated eye exam within 24 hours of birth when possible
- 8 weeks–12 months: eye exams monthly with sedation
- 1–2 years: eye exams every 2 months with sedation
- 2–3 years: eye exams every 3 months with sedation
- 3–4 years: eye exams every 4 months with sedation
- 4–5 years: eye exams every 6 months with sedation
- 5–7 years: every 6 months unsedated eye exams
- MRI imaging of the brain every 6 months, until age 5 to look for brain tumors
In older children and adults with hereditary retinoblastoma, health care should include:
- Yearly physical exams that include a full skin exam for signs of melanoma (see Signs and Symptoms of Melanoma Skin Cancer)
- Genetic counseling to learn about their diagnosis and risk for passing RB1 gene changes to their children
Some doctors may recommend other imaging tests to detect bone and soft tissue tumors early. The benefit of these tests has not yet been proven for people with hereditary retinoblastoma. Talk with your cancer care team about whether any other testing is recommended for you or your child.
All people with hereditary retinoblastoma should:
- Avoid radiation whenever possible
- Avoid sun exposure and protect their skin with sun-protective clothing or sunscreen
- Avoid smoking or excess alcohol intake, as these can increase the risk of cancer
- Eat a balanced diet and exercise regularly
- Seek medical care for any new signs or symptoms that may be cancer, such as an abnormal mole, lump, or growth, changes in vision, weight loss, or changes in energy
Treatment of cancers in people with hereditary retinoblastoma
Treatment for cancers related to hereditary retinoblastoma is like treatment for other people with those cancers. Doctors may make a special treatment plan for children with hereditary retinoblastoma, choosing treatments that may save the eyesight, knowing that the risk of tumors in both eyes is higher. Doctors will also often avoid radiation, when possible, to decrease the risk of developing other cancers later.
Make sure your treatment team knows your cancer history, prior treatment, and any gene testing results you have. This can help doctors treat you.
Questions to ask your doctor
- What signs or symptoms should I watch for?
- What is my (child’s) risk of developing cancer?
- What can I do to lower my child’s risk of developing cancer?
- What cancer surveillance tests should I (my child) have?
- Should my family members get tested for hereditary retinoblastoma?
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- References
Developed by the American Cancer Society medical and editorial content team with medical review and contribution by the American Society of Clinical Oncology (ASCO).
Kamihara J, Bourdeaut F, Foulkes WD, et al. Retinoblastoma and Neuroblastoma Predisposition and Surveillance. Clin Cancer Res. 2017;23(13):e98-e106.
Kamihara J, Schienda J, McGee RB, et al. Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children. Clin Cancer Res. 2025;31(9):1573-1579.
National Cancer Institute. Retinoblastoma Treatment (PDQ®). 2025. Accessed at www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq on July 2, 2025.
Schonfeld SJ, Kleinerman RA, Abramson DH, Seddon JM, Tucker MA, Morton LM. Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors. Br J Cancer. 2021;124(7):1312-1319.
Tonorezos ES, Friedman DN, Barnea D, et al. Recommendations for Long-Term Follow-up of Adults with Heritable Retinoblastoma. Ophthalmology. 2020;127(11):1549-1557.
Last Revised: September 10, 2025
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