Retinoblastoma: Childhood Eye Cancer Symptoms and Treatment

Author: Thomas C. Weiss
Published: 4 Mar 2010 - Updated: 2 Oct 2026
Publication Type: Informative

Table of Contents:
Synopsis - Definition - Overview - FAQs - Insights, Updates - Related Content

Synopsis

This information covers retinoblastoma, a rare childhood cancer that begins in immature cells of the retina and can affect one eye (unilateral) or both (bilateral), with most children diagnosed before the age of five. It walks through the heritable and non-heritable forms of the disease, the warning signs parents are most likely to spot at home, how RB1 gene testing and sibling eye exams are used, and how treatment aims to cure the cancer while saving as much sight as possible. Because the tumor usually stays confined to the eye, more than ninety percent of children treated in time are cured, though many live with lasting visual field defects afterward. The material is useful to parents, caregivers, and adult survivors because it draws on clinical study data covering survival, vision outcomes, and screening schedules, and it notes that the U.S. Social Security Administration lists bilateral retinoblastoma as a Compassionate Allowance condition, which speeds up disability claims for affected families.*

At a Glance

• 1 - The RB1 gene linked to retinoblastoma sits within the q14 band of chromosome 13.
• 2 - Retinoblastoma accounts for roughly three percent of all cancers in children under fifteen years of age.
• 3 - Around 90 percent of people diagnosed with retinoblastoma have no family history of the disease, yet genetic counseling is advised in every case.
• 4 - Between 5 and 15 percent of children with multi-focal, familial, or bilateral retinoblastoma may develop an intracranial neuroblastic tumor, a syndrome known as trilateral retinoblastoma.

Topic Definition

Retinoblastoma

Retinoblastoma is a rare cancer of the retina, the light-sensitive tissue lining the back of the eye, that develops almost entirely in infants and young children. It arises when both copies of the RB1 tumor suppressor gene on chromosome 13 are altered in a developing retinal cell, allowing that cell to multiply unchecked. The disease may affect one eye or both, and it occurs in a heritable form, in which the gene change is present in every cell of the body and can be passed on to children, and a non-heritable form limited to a single retinal cell. A white reflection in the pupil and crossed or misaligned eyes are its most recognized early signs.

Overview

Retinoblastoma is a form of childhood cancer that starts from immature retinal cells in one or both of the person's eyes and may begin from the time a child is still in the mother's womb until they are five years of age. The form of cancer is curable if it is caught early enough. In developed countries, about ninety-seven percent of children with retinoblastoma survive, though many live with moderate to severe visual impairments.

The U.S. Social Security Administration (SSA) has included Bilateral Retinoblastoma as a Compassionate Allowance to expedite a disability claim.

Retinoblastoma is a rare tumor, accounting for approximately three percent of all cancers in children under fifteen. The tumors start in the retina, the light-sensitive layer of the person's eye that enables them to see. Tumors present in one eye are referred to as 'unilateral retinoblastoma.' When they are present in both of the person's eyes, they are referred to as 'bilateral retinoblastoma.' Nearly sixty percent of the people who experience retinoblastoma have unilateral retinoblastoma, with the remainder experiencing bilateral retinoblastoma. Around ninety percent of people with retinoblastoma do not have a family history of the disease; the remaining people newly diagnosed have family members with retinoblastoma.

Each year in America, it is estimated that approximately ten to fourteen children per million between birth and four years of age are diagnosed with retinoblastoma. While ninety-five percent of children with this form of cancer are diagnosed before age five, people with retinoblastoma who are diagnosed after age five tend to have a poorer prognosis. Retinoblastoma is a tumor that occurs in both heritable and non-heritable forms. The heritable form of the disease includes people with positive family history and those who have sustained a new mutation at the time of conception. The fact that retinoblastoma is usually confined to the person's eye finds more than ninety percent of children with it being cured. The current challenge from a medical standpoint is the treatment of retinoblastoma while preventing loss of the person's eye, blindness, or other serious effects as a result of treatment for the disease that may reduce the person's lifespan or quality of their life.

Causes of Retinoblastoma

The heritable retinoblastoma can manifest in either the unilateral or bilateral form of the disease. Most unilateral diseases are not heritable, although children with bilateral are presumed to have the inheritable form of the disease. Infants with unilateral tumors are more likely to have the inheritable form of retinoblastoma, while older children with unilateral tumors are more likely to have the non-heritable form. Young children with unilateral tumors have fewer genetic abnormalities than older children. Children with heritable retinoblastoma with normal eye examination results in at least one eye need to be re-examined frequently for the potential development of new tumors, approximately every two to four months for at least twenty-eight months. After receiving treatment, people with retinoblastoma require eye examinations until they reach age five.

'Trilateral' retinoblastoma is a well-recognized syndrome of unilateral or bilateral heritable retinoblastoma associated with an intracranial neuroblastic tumor. Approximately five to fifteen percent of children with multi-focal, familial, or bilateral retinoblastoma might develop an intracranial neuroblastic tumor. Children with the heritable form of retinoblastoma also have an increased risk of trilateral retinoblastoma, which is associated with a poor prognosis. Intensive therapy forms currently under development may offer some promise for children with this form of retinoblastoma.

Risks

In a study of nine hundred and sixty-three people who were at least one year survivors of hereditary retinoblastoma in America between 1914 and 1984, risks were elevated for soft tissue sarcoma overall, with leiomyosarcoma being the most frequent subtype. Seventy-eight percent of leiomyosarcomas are diagnosed thirty or more years after the person received a diagnosis of retinoblastoma. The risks were elevated in people whether or not they were treated with radiation. In people who did receive radiation therapy, sarcomas were found both within and outside of the area of radiation treatment. What this suggests is that there may be a genetic predisposition to soft tissue sarcoma in some people.

There is a notable increase in mortality due to bladder, lung, and other epithelial cancers in people with heritable retinoblastoma who did not receive radiation therapy. Tobacco use is associated with these forms of cancer in this population. Carcinogenic effects of radiation increase with the dose administered, particularly for secondary sarcomas. In people who have received radiation therapy, two-thirds of the secondary cancers have occurred within the irradiated tissues, and one-third occurred outside of the irradiated tissues. The risks increase depending on the person's age at the time radiation therapy is administered, with the risk being less for people who are older than twelve months.

Symptoms of Retinoblastoma

Common signs of retinoblastoma include a white glow or glint in the pupil of one or both of the person's eyes in dim lighting, a white pupil in a color photograph, or crossed or misaligned eyes. If you notice a white glow in any of your children's pictures, contact a pediatrician or an ophthalmologist promptly and have their eyes examined. Ask them to dilate both of your child's eyes. If the doctor is unwilling or unable to dilate your child's eyes, seek another doctor.
While it is rare, retinoblastoma may spread or 'metastasize' outside a person's eye and into their brain, central nervous system, or bones. When this happens, chemotherapy is prescribed by a pediatrician specializing in oncology. It is administered through the child's peripheral blood vessels or into their brain for months or years after diagnosis.

Testing

Siblings of people with retinoblastoma need to have regular ophthalmic exams. Studies suggest that DNA polymorphism analysis can assist in predicting who is at risk. Genetic counseling should be a part of the therapy a person with retinoblastoma receives, whether they have the unilateral or bilateral form of the disease. Ten to eighteen percent of children with retinoblastoma have somatic genetic mosaicism, which makes their genetic 'story' more complex and contributes to the difficulty of genetic counseling.

Exon by exon sequencing of the person's RB1 gene demonstrates germline mutation in around ninety percent of people with the heritable form of retinoblastoma. While a positive finding confirms susceptibility, a negative one does not rule it out. A multi-step assay includes DNA sequencing to identify mutations within coding exons and immediate flanking intronic regions, Southern blot analysis to characterize genomic rearrangements, and transcript analysis to characterize potential splicing mutations buried within introns. Expanded analysis shows promise in better defining the functional significance of seemingly novel mutations in pilot investigations. The RB1 gene is located within the q14 band of chromosome 13. The absence of detectable RB1 mutations in some people might suggest that alternative genetic mechanisms could underlie the development of retinoblastoma.

Treatment of Retinoblastoma

The kind of treatment a person requires depends on the extent of the disease within their eye and whether or not the disease has spread beyond their eye to their brain or other parts of their body. The risk of extraocular recurrence can be increased in the presence of pathologic sclera invasion and in people who need bilateral enucleation. People with retinoblastoma commonly have extensive disease in one eye when diagnosed, with either a tumor involving more than half of the retina, multiple tumors spread across the retina, or obvious vitreous seeding. People who have bilateral retinoblastoma should receive targeted, systemic therapy to treat the more severe eye. The therapy goals involve eradicating the disease, preserving the person's vision, and decreasing the risk of late sequelae from treatment.

People with retinoblastoma often experience a variety of long-term visual field defects after receiving treatment. The defects are related to the size of the tumor, its location, and the method of treatment administered. One study of visual acuity following treatment with systemic chemotherapy and focal ophthalmic therapy was conducted in forty children and involved fifty-four of their eyes. After a follow-up of sixty-eight months, twenty-seven of the children had a final visual acuity of 20/40 or better, while some had eyes with a final visual acuity of 20/200 or better. The clinical factors that predicted visual acuity of 20/40 or better were a tumor margin of at least 3 millimeters from the foveola and optic disk and an absence of sub-retinal fluid.

Systemic carboplatin is commonly used in the treatment of retinoblastoma. There has been some concern about hearing loss in this form of therapy. One analysis of one hundred and sixty-four children who received treatment with six cycles of carboplatin-containing therapy demonstrated no loss of hearing among children who had a normal initial audiogram.

People who are asymptomatic when diagnosed with an intracranial tumor tend to have a better overall survival rate than people who experience symptoms. Screening through neuroimaging can improve their cure rate. One recommendation is that children with heritable retinoblastoma should be screened using magnetic resonance neuroimaging every six months after being diagnosed until they reach the age of five. The use of chemotherapy to reduce the extent of intraocular tumors in people with bilateral retinoblastoma could prevent the development of pineal tumors.

Frequently Asked Questions

NOTE: Researched FAQs by Disabled World (DW)

What is leukocoria and does it always mean retinoblastoma?

Leukocoria is the medical term for a white pupil reflex, often noticed in flash photographs. It is the most common first sign of retinoblastoma, but it can also be caused by cataracts, Coats disease, retinal detachment, and other eye conditions, so a prompt dilated eye exam is needed to find the cause.

How many children are diagnosed with retinoblastoma each year in the United States?

Roughly 200 to 300 children are diagnosed with retinoblastoma in the United States each year, making it the most common eye cancer of childhood while still being rare overall.

How is retinoblastoma diagnosed?

Diagnosis is usually made by a pediatric ophthalmologist or ocular oncologist through a dilated eye examination, often under anesthesia, supported by eye ultrasound and MRI. A biopsy is generally avoided because it can spread tumor cells outside the eye.

What is enucleation and when is it used for retinoblastoma?

Enucleation is the surgical removal of the eye. It is typically recommended when a tumor is large, useful vision cannot be saved, or there is a risk of the cancer spreading beyond the eye, and it is often curative for disease confined to one eye.

Can a child have a prosthetic eye after enucleation?

Yes. An orbital implant is usually placed during surgery, and a custom artificial eye made by an ocularist is fitted several weeks later. The prosthesis is matched to the other eye and is refitted as the child grows.

What is intra-arterial chemotherapy for retinoblastoma?

Intra-arterial chemotherapy delivers medication through a thin catheter directly into the ophthalmic artery that supplies the eye. This concentrates the drug at the tumor while limiting exposure to the rest of the body, and it is offered at specialized treatment centers.

Can adults develop retinoblastoma?

Retinoblastoma in adults is extremely rare, with only a small number of cases reported in the medical literature. Adults who had heritable retinoblastoma as children do, however, need lifelong follow-up because of their raised risk of other cancers.

What is the chance that a parent with heritable retinoblastoma will pass it to a child?

Each child of a parent who carries a germline RB1 mutation has a 50 percent chance of inheriting it. Most children who inherit the mutation go on to develop retinoblastoma, which is why genetic testing and eye screening from birth are recommended for these families.

Insights, Analysis, and Developments

Editorial Note: Retinoblastoma is one of the few cancers a parent can catch with a camera - a white glow in a child's pupil in a flash photo is reason enough to insist on a dilated eye exam, and to find another doctor if the first one declines. What tends to get less attention is what comes after the cure. Survivors of the heritable form carry a raised lifetime risk of second cancers, including soft tissue sarcomas that may not appear until thirty or more years later, and bladder, lung, and other epithelial cancers that are tied to tobacco use in this group. That makes retinoblastoma a lifelong matter rather than a closed chapter of early childhood: regular follow-up, genetic counseling for the wider family, eye exams for siblings, and avoiding smoking all carry real weight for adults who were treated as infants.*

Author Credentials: Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursuing Disability Studies. As a CNA Thomas has provided care for people with all forms of disabilities. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.

* Editorial additions by Ian C. Langtree.