Eye cancers, also known as ocular cancers, are abnormal malignant growths in the eye. Retinoblastoma is a common eye cancer in children that begins in the retina, a layer of cells in the back of the eye that enables vision. The disease accounts for around two percent of all childhood cancers, and in the US, 200 to 300 children are diagnosed with it each year (1).
Read this post to learn about the signs, causes, risk factors, complications, diagnosis, and treatment of retinoblastoma in children.
Signs And Symptoms Of Retinoblastoma In Children
The signs and symptoms of retinoblastoma are often found during routine examinations of babies. Some cases are diagnosed after parents notice symptoms. It is often diagnosed in infancy and is rare after age six (1). Cases are also diagnosed after parents notice some of the following common symptoms of retinoblastoma in children (2) (3):
- Leukocoria or white pupillary reflex is an abnormal retinal reflex that appears like shining or glowing eyes. When the light falls on it, the usually red pupil (due to blood vessels in the back of the eye) appears white. It is particularly evident in photographs and dark rooms with artificial light.
- Strabismus or squint is a condition where both eyes do not turn in the same direction while looking at an object. Some children can have squints without other eye conditions.
- Dilated or enlarged pupil
- Change in iris color. Some children may have different colored irises in both eyes. In addition, some may have color changes in one part of the eye.
- Red and swollen eyes
- Poor vision from birth, vision deteriorating over time, or issues with focusing may be seen in young children.
Risk Factors And Causes Of Eye Cancers
A genetic mutation of the RB1 gene causes retinoblastoma. Around 40% of children with retinoblastoma inherit the RB1 gene mutation from their parents (heritable retinoblastoma), while 60% have a spontaneous gene mutation without apparent reasons (non-heritable retinoblastoma). Parents with gene mutations have a 50% chance of having a child with a similar condition.
Around 60% of heritable retinoblastoma affects both eyes (bilateral retinoblastoma), and 30% have unilateral retinoblastoma (one eye). The remaining 10% with this gene mutation may not develop retinal tumors. Non-heritable retinoblastoma is also unilateral (4).
Complications Of Retinoblastoma In Children
Recurrence of cancer in and around the same eye after treatment is the most common complication seen in children with retinoblastoma. In addition, vision impairment, such as visual field defects and blindness, may occur in some children depending on the stage (spread) of retinoblastoma (5).
Children with inherited retinoblastoma can also be at risk of other cancers. Therefore, regular cancer screening is needed to identify and treat recurrent and related cancers.
When To See A Doctor
If you notice any symptoms of retinoblastoma, it is recommended to seek medical care. Further, if you have a family history of retinoblastoma, inform your doctor and begin screening from an early age. Routine well-baby examinations can also be helpful for diagnosis.
Diagnosis Of Eye Cancer In Children
Medical history and physical examinations can be suggestive of diagnosis in many children. The pediatrician may refer to a team of specialists, including ophthalmologists (eye specialists) and ocular oncologists (specialists in eye cancer), for detailed evaluation, diagnosis, and treatment.
The following tests are usually ordered to confirm the diagnosis and identify the spread of retinoblastoma in children (6):
- Imaging tests, including ultrasounds and magnetic resonance imaging (MRI), computed tomography (CT), optical coherence tomography (OCT), and bone scans, may help identify the extent of tumor spread.
- Genetic testing helps to differentiate non-heritable and heritable (congenital) forms of retinoblastoma. A blood test can help identify the RB1 gene.
- A biopsy is the removal of tissue samples to confirm the diagnosis. Doctors rarely order a biopsy for retinoblastoma since the tumor is located at the back of the eye, and the procedure may damage the eye or cause the tumor to spread. However, if the eye examinations and imaging tests strongly indicate other types of eye cancer, a biopsy may be done.
- A spinal tap or lumbar puncture is done if some signs or symptoms indicate tumor spread. It helps identify cancer cells in the cerebrospinal fluid (CSF) surrounding the spinal cord and brain, the presence of which indicates that the retinoblastoma is growing along the optic nerve and has spread to the central nervous system.
- A bone marrow aspiration and biopsy can identify the spread of cancer to the bone by looking for cancer cells in the bone tissue.
These tests are essential to determine the extent of tumor spread (stage). Doctors may determine different grades or stages of retinoblastoma based on how far it is spread. For example, imaging tests help identify intraocular retinoblastoma (within the eye) and extraocular retinoblastoma (spread outside the eye). In addition, prognosis and treatment options may vary depending on the spread of the tumor.
Treatment For Eye Cancer In Children
Doctors may recommend the following treatments based on the stage of the eye cancer and other factors (4):
- Chemotherapy uses specific drugs to destroy or stop the growth of cancer cells. These drugs are administered in doses for a few weeks or months.
- Laser therapy, including thermotherapy and photocoagulation, uses heat to destroy the tumor.
- Cryoablation or cryotherapy uses extreme cold, such as liquid nitrogen, to destroy the cancer cells.
- Radiation therapy utilizes high-energy radio waves to destroy cancer cells using tiny devices called radioactive plaques secured over the tumor. They deliver radiation directly to the tumor, causing it to shrink, and are removed after the treatment.
- Enucleation is the surgical removal of the entire eyeball and part of the optic nerve for large tumors, following which artificial eyeballs and lenses may be placed in the socket.
Discuss with the child’s health care providers to understand the treatment methods that best fit the child’s specific situation.
Prognosis And Survival Rate
After treatment, children with intraocular retinoblastoma have a five-year survival rate of 96.5%. However, the outlook may vary in children with advanced retinoblastoma with extraocular spread (4). Doctors may order follow-up visits after treatment to diagnose recurrence or other types of cancer, and children with inherited forms may need frequent follow-ups.
Can Retinoblastoma Be Prevented?
Non-heritable retinoblastoma cannot be prevented since the causes are unknown. However, before planning pregnancy, genetic testing and counseling can help parents with a family history of retinoblastoma understand the risk factors for early diagnosis and treatment (4).
Retinoblastoma can impair normal vision in most children. However, early diagnosis and treatment can lead to better outcomes. Parental knowledge about the symptoms and regular well-baby visits can help identify the condition early.
- Retinoblastoma is a type of eye cancer that develops in the retina of children due to mutation in the RB1 gene.
- Squint, dilated pupils, and poor vision are some symptoms of retinoblastoma.
- The diagnosis of retinoblastoma involves imaging tests, genetic testing, biopsy, etc.
- Chemotherapy, laser therapy, and cryotherapy are some of the treatment options.
- Key Statistics for Retinoblastoma.
- Retinoblastoma (Eye Cancer in Children).
- Retinoblastoma (Cancer of the Eye).
- Tests for Retinoblastoma.