Table of ContentsView AllTable of ContentsTypesSymptomsCausesDiagnosisTreatmentLife ExpectancyCoping
Table of ContentsView All
View All
Table of Contents
Types
Symptoms
Causes
Diagnosis
Treatment
Life Expectancy
Coping
Retinoblastomais a rareeye cancerthat begins in theretina, a layer of tissue near the optic nerve, and occurs once in about 18,000 births.It sometimes occurs in older children and adults, but most cases are diagnosed in children under the age of 5.
This article discusses retinoblastoma symptoms, the genetic cause and diagnosis of this cancer, and how it is treated. It provides information about coping and life expectancy with retinoblastoma.
Types of Retinoblastoma
Retinoblastoma can occur in one eye or both eyes, with an equal frequency between the left and the right. There are three types of retinoblastoma, as well as three retinal subtypes. The types are:
Retinoblastoma stages, or retinal subtypes, are:
Retinoblastoma Symptoms
Because retinoblastoma most often appears in infants and toddlers, parents usually first notice that something is not quite right with their child’s eye. The eye may appear deformed or irritated, or their vision may seem impaired.Symptoms of retinoblastoma include:
If cancer is not detected when it is still limited to the eye, it may spread (metastasize) to the other eye, other areas of the head or brain, the spine, or distant parts of the body.Symptoms ofmetastasizedretinoblastoma include:
Retinoblastoma Causes
Retinoblastoma occurs when a tumor develops in some of the brain’s primitive nerve cells. Nearly 85% of unilateral (affecting one eye) retinoblastoma cases are referred to as “sporadic,” meaning that doctors do not know what caused them.In the other 15% of cases, thegenetic predispositionhas been inherited from one or both parents, even if they never had it themselves.
Bilateral retinoblastoma (affecting both eyes) isusuallyhereditary. Trilateral retinoblastoma (affecting both eyes and pineal gland) isalwayshereditary.
Retinoblastoma Gene Mutations
Gene mutations that cause retinoblastoma include:
The Cause of Mutation Is Currently UnknownWhether mutations are inherited or sporadic, scientists do not know what causes them. Instead, they suspect random errors in gene transcription and have not identified any environmental or lifestyle causes. A 2023 study found about 5% of healthy people in families with a history of retinoblastoma carried the gene mutation but did not develop cancer.
The Cause of Mutation Is Currently Unknown
Whether mutations are inherited or sporadic, scientists do not know what causes them. Instead, they suspect random errors in gene transcription and have not identified any environmental or lifestyle causes. A 2023 study found about 5% of healthy people in families with a history of retinoblastoma carried the gene mutation but did not develop cancer.
How Is Retinoblastoma Diagnosed?
People with bilateral retinoblastoma tend to be diagnosed before they are 1 year old, typically earlier than those with unilateral retinoblastoma.
The most accurate way to diagnose retinoblastoma is through an ophthalmic examination, ideally performed under general anesthesia.During this exam, theophthalmologist(a medical doctor that diagnoses and treats eye diseases):
Other Labs and Tests
In addition to an ophthalmic examination, the ophthalmologist may order or perform the following tests:
Assessing SpreadTo make sure cancer has not spread anywhere else, a pediatric oncologist will also conduct a physical exam, blood tests, a spinal tap, andtesting of bone marrow tissue.
Assessing Spread
To make sure cancer has not spread anywhere else, a pediatric oncologist will also conduct a physical exam, blood tests, a spinal tap, andtesting of bone marrow tissue.
Retinoblastoma Treatment
Most people will have a combination oftreatmentsthat may extend over months or years. The most important factors that guide treatment protocol include type, subtype, and staging.
In the case of some small tumors, focal treatments (noninvasive techniques) might be sufficient for treatment and removal. These include:
In most cases, tumors are larger or difficult to access, so the care plan consists of both focal treatments and chemotherapy.
Chemotherapy and Radiation
When systemic (whole body)chemotherapyis part of the treatment plan, it ordinarily continues for six months. In recent years, manyoncologists(cancer specialists) have instead ordered targeted chemotherapy, delivered directly into the artery that supplies blood to the eye (intra-arterial chemotherapy).
When retinoblastoma has spread throughout the eye, another strategy is direct chemo injection into the eye (intravitreal chemotherapy).Usually, this entails several treatments, each a few weeks apart.
When chemotherapy concludes,external radiation therapymight be added to the regimen, especially if you have hereditary retinoblastoma, making recurrence more likely.
When there are large tumors in both eyes, chemotherapy can be used to shrink the tumors and potentially prevent surgery or save vision in at least one eye.
Removal of the EyeIf these treatment combinations cannot control cancer, the eye may need to be removed. If the eye has already lost vision, the tumor is extremely advanced, or there is painful, increasing pressure in the eye due toglaucomas, the eye is removed and replaced with an orbital implant (glass eye).
Removal of the Eye
If these treatment combinations cannot control cancer, the eye may need to be removed. If the eye has already lost vision, the tumor is extremely advanced, or there is painful, increasing pressure in the eye due toglaucomas, the eye is removed and replaced with an orbital implant (glass eye).
If retinoblastoma has spread to distant sites, the prognosis is more concerning and requires more aggressive treatment, such as higher doses of chemotherapy and a stem cell transplant. Enrolling in clinical trials to take advantage of newer treatments may be a promising option for later stage cancers.
What Is the Life Expectancy of Retinoblastoma?
Out of every 10 children with retinoblastoma, nine are cured.The chances of being cured are dramatically improved if cancer is caught in its early stages. Left untreated, though, retinoblastoma is nearly always fatal.
Almost all children who are treated for retinoblastoma live for five years or more after finishing treatment. Those who are cancer-free after five years are considered cured.
Early diagnosis and treatment are crucial to prevent vision loss and the metastasis of retinoblastoma beyond the eye. All genders have similar outcomes with the treatment of the disease. Children from underserved or minority communities are often diagnosed later and therefore have less favorable outcomes. This is purelysocioeconomic; there is no genetic influence on outcome based on race or ethnicity.
Risk of Other CancersDue to the same genetic mutations that led to retinoblastoma, and to the effects of chemotherapy and radiation, people who had cancer do have an increased risk of other cancers later on in life. For this reason, the person who had cancer, their families, and providers will want to remain vigilant in order to catch any subsequent cancers early.
Risk of Other Cancers
Due to the same genetic mutations that led to retinoblastoma, and to the effects of chemotherapy and radiation, people who had cancer do have an increased risk of other cancers later on in life. For this reason, the person who had cancer, their families, and providers will want to remain vigilant in order to catch any subsequent cancers early.
Why Does Cancer Come Back?
Coping With Retinoblastoma
A cancer diagnosis can create a sense of helplessness, despair, depression, anger, or fear. Parents of a child with retinoblastoma need to remember that they did not cause the disease. Children with cancer and their parents need to practice self-care, including adequate rest, healthy eating, and exercise. Talking to family and friends can be helpful, and therapy orsupport groupsmight help a lot as well.
Tips for ParentsIf you are parenting a child with retinoblastoma, help your child to get familiar with smells, sounds, textures, and surface changes to make up for any vision deficiencies. Start using your voice to convey directives or emotions that would normally be conveyed through facial expressions.
Tips for Parents
If you are parenting a child with retinoblastoma, help your child to get familiar with smells, sounds, textures, and surface changes to make up for any vision deficiencies. Start using your voice to convey directives or emotions that would normally be conveyed through facial expressions.
Summary
Symptoms of retinoblastoma include redness, blurry vision, a crossed eye or eyes, white pupil(s), pain, and more. It is most often diagnosed with an ophthalmic examination, but may also include an ultrasound, MRI, electroretinogram, and/or genetic testing.
Retinoblastoma can be treated with noninvasive techniques such as laser therapy, cryotherapy, and brachytherapy. Sometimes these therapies are combined with chemotherapy and/or radiation. If cancer is in only one eye, removal of the eye may be considered. Early diagnosis and treatment are crucial to prevent vision loss and the metastasis of retinoblastoma beyond the eye.
12 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Byroju VV, Nadukkandy AS, Cordani M, Kumar LD.Retinoblastoma: present scenario and future challenges.Cell Commun Signal. 2023 Sep 4;21(1):226. doi:10.1186/s12964-023-01223-z.Fabian ID, Sagoo MS.Understanding retinoblastoma: epidemiology and genetics.Community Eye Health. 2018;31(101):7.Eiset SE, Funding M, Racher H, Heegaard S, Gallie B, Urbak SF,et al.Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivityRB1germline deletion.Clin Case Rep. 2022 Mar 18;10(3):e05498. doi:10.1002/ccr3.5498.American Cancer Society.Signs and symptoms of retinoblastoma.National Organization for Rare Disorders.Retinoblastoma.El Zomor, H, Nour, R, Saad, A. et al.Unilateral retinoblastoma; natural history and an age-based protocol in 248 patients.Eye.2021;35(9):2564–2572. doi:10.1038/s41433-020-01275-2Wang YZ, Zhang Y, Huang DS, et al.Clinical characteristics, treatment and prognosis of children with unilateral retinoblastoma and intracranial segment of Retrobulbar optic nerve invasion.BMC Ophthalmol.2021;21(1):38. doi:10.1186/s12886-020-01768-4Akdeniz Odemis D, Kebudi R, Bayramova J, Kilic Erciyas S, Kuru Turkcan G,et al.RB1 gene mutations and genetic spectrum in retinoblastoma cases.Medicine (Baltimore). 2023 Sep 8;102(36):e35068. doi: 10.1097/MD.0000000000035068.National Eye Institute.Tests for Retinoblastoma.Ancona-Lezama D, Dalvin LA, Shields CL.Modern treatment of retinoblastoma: a 2020 review.Indian J Ophthalmol. 2020;68(11):2356-2365. doi:10.4103/ijo.IJO_721_20Pekacka A.The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma.J Ophthalmol. 2020 Jan 24;2020:3638410. doi:10.1155/2020/3638410.Raval V, Bowen RC, Soto H, Singh A.Intravenous Chemotherapy for Retinoblastoma in the Era of Intravitreal Chemotherapy: A Systematic Review.Ocul Oncol Pathol. 2021 Mar;7(2):142-148. doi: 10.1159/000510506.
12 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Byroju VV, Nadukkandy AS, Cordani M, Kumar LD.Retinoblastoma: present scenario and future challenges.Cell Commun Signal. 2023 Sep 4;21(1):226. doi:10.1186/s12964-023-01223-z.Fabian ID, Sagoo MS.Understanding retinoblastoma: epidemiology and genetics.Community Eye Health. 2018;31(101):7.Eiset SE, Funding M, Racher H, Heegaard S, Gallie B, Urbak SF,et al.Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivityRB1germline deletion.Clin Case Rep. 2022 Mar 18;10(3):e05498. doi:10.1002/ccr3.5498.American Cancer Society.Signs and symptoms of retinoblastoma.National Organization for Rare Disorders.Retinoblastoma.El Zomor, H, Nour, R, Saad, A. et al.Unilateral retinoblastoma; natural history and an age-based protocol in 248 patients.Eye.2021;35(9):2564–2572. doi:10.1038/s41433-020-01275-2Wang YZ, Zhang Y, Huang DS, et al.Clinical characteristics, treatment and prognosis of children with unilateral retinoblastoma and intracranial segment of Retrobulbar optic nerve invasion.BMC Ophthalmol.2021;21(1):38. doi:10.1186/s12886-020-01768-4Akdeniz Odemis D, Kebudi R, Bayramova J, Kilic Erciyas S, Kuru Turkcan G,et al.RB1 gene mutations and genetic spectrum in retinoblastoma cases.Medicine (Baltimore). 2023 Sep 8;102(36):e35068. doi: 10.1097/MD.0000000000035068.National Eye Institute.Tests for Retinoblastoma.Ancona-Lezama D, Dalvin LA, Shields CL.Modern treatment of retinoblastoma: a 2020 review.Indian J Ophthalmol. 2020;68(11):2356-2365. doi:10.4103/ijo.IJO_721_20Pekacka A.The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma.J Ophthalmol. 2020 Jan 24;2020:3638410. doi:10.1155/2020/3638410.Raval V, Bowen RC, Soto H, Singh A.Intravenous Chemotherapy for Retinoblastoma in the Era of Intravitreal Chemotherapy: A Systematic Review.Ocul Oncol Pathol. 2021 Mar;7(2):142-148. doi: 10.1159/000510506.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Byroju VV, Nadukkandy AS, Cordani M, Kumar LD.Retinoblastoma: present scenario and future challenges.Cell Commun Signal. 2023 Sep 4;21(1):226. doi:10.1186/s12964-023-01223-z.Fabian ID, Sagoo MS.Understanding retinoblastoma: epidemiology and genetics.Community Eye Health. 2018;31(101):7.Eiset SE, Funding M, Racher H, Heegaard S, Gallie B, Urbak SF,et al.Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivityRB1germline deletion.Clin Case Rep. 2022 Mar 18;10(3):e05498. doi:10.1002/ccr3.5498.American Cancer Society.Signs and symptoms of retinoblastoma.National Organization for Rare Disorders.Retinoblastoma.El Zomor, H, Nour, R, Saad, A. et al.Unilateral retinoblastoma; natural history and an age-based protocol in 248 patients.Eye.2021;35(9):2564–2572. doi:10.1038/s41433-020-01275-2Wang YZ, Zhang Y, Huang DS, et al.Clinical characteristics, treatment and prognosis of children with unilateral retinoblastoma and intracranial segment of Retrobulbar optic nerve invasion.BMC Ophthalmol.2021;21(1):38. doi:10.1186/s12886-020-01768-4Akdeniz Odemis D, Kebudi R, Bayramova J, Kilic Erciyas S, Kuru Turkcan G,et al.RB1 gene mutations and genetic spectrum in retinoblastoma cases.Medicine (Baltimore). 2023 Sep 8;102(36):e35068. doi: 10.1097/MD.0000000000035068.National Eye Institute.Tests for Retinoblastoma.Ancona-Lezama D, Dalvin LA, Shields CL.Modern treatment of retinoblastoma: a 2020 review.Indian J Ophthalmol. 2020;68(11):2356-2365. doi:10.4103/ijo.IJO_721_20Pekacka A.The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma.J Ophthalmol. 2020 Jan 24;2020:3638410. doi:10.1155/2020/3638410.Raval V, Bowen RC, Soto H, Singh A.Intravenous Chemotherapy for Retinoblastoma in the Era of Intravitreal Chemotherapy: A Systematic Review.Ocul Oncol Pathol. 2021 Mar;7(2):142-148. doi: 10.1159/000510506.
Byroju VV, Nadukkandy AS, Cordani M, Kumar LD.Retinoblastoma: present scenario and future challenges.Cell Commun Signal. 2023 Sep 4;21(1):226. doi:10.1186/s12964-023-01223-z.
Fabian ID, Sagoo MS.Understanding retinoblastoma: epidemiology and genetics.Community Eye Health. 2018;31(101):7.
Eiset SE, Funding M, Racher H, Heegaard S, Gallie B, Urbak SF,et al.Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivityRB1germline deletion.Clin Case Rep. 2022 Mar 18;10(3):e05498. doi:10.1002/ccr3.5498.
American Cancer Society.Signs and symptoms of retinoblastoma.
National Organization for Rare Disorders.Retinoblastoma.
El Zomor, H, Nour, R, Saad, A. et al.Unilateral retinoblastoma; natural history and an age-based protocol in 248 patients.Eye.2021;35(9):2564–2572. doi:10.1038/s41433-020-01275-2
Wang YZ, Zhang Y, Huang DS, et al.Clinical characteristics, treatment and prognosis of children with unilateral retinoblastoma and intracranial segment of Retrobulbar optic nerve invasion.BMC Ophthalmol.2021;21(1):38. doi:10.1186/s12886-020-01768-4
Akdeniz Odemis D, Kebudi R, Bayramova J, Kilic Erciyas S, Kuru Turkcan G,et al.RB1 gene mutations and genetic spectrum in retinoblastoma cases.Medicine (Baltimore). 2023 Sep 8;102(36):e35068. doi: 10.1097/MD.0000000000035068.
National Eye Institute.Tests for Retinoblastoma.
Ancona-Lezama D, Dalvin LA, Shields CL.Modern treatment of retinoblastoma: a 2020 review.Indian J Ophthalmol. 2020;68(11):2356-2365. doi:10.4103/ijo.IJO_721_20
Pekacka A.The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma.J Ophthalmol. 2020 Jan 24;2020:3638410. doi:10.1155/2020/3638410.
Raval V, Bowen RC, Soto H, Singh A.Intravenous Chemotherapy for Retinoblastoma in the Era of Intravitreal Chemotherapy: A Systematic Review.Ocul Oncol Pathol. 2021 Mar;7(2):142-148. doi: 10.1159/000510506.
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