Retinoblastoma is a rare form of cancer that develops in the retina, the part of the eye that receives light and sends visual messages to the brain.

This type of cancer mostly affects children between the ages of 6 months and 5 years, and it can affect one or both eyes. In this article, we will discuss what retinoblastoma is, the risks for children, and the ways that it can be diagnosed and treated.

What is Retinoblastoma?

Retinoblastoma is a type of cancer that starts in the retina, the lining at the back of the eye. The retina contains cells called photoreceptors that react to light and send signals to the brain, which processes them into images.

Retinoblastoma develops when these cells begin to multiply uncontrollably, forming a tumor that can grow and spread to other parts of the eye or the body.

What are the Causes of Retinoblastoma?

In most cases, retinoblastoma is caused by genetic mutations that are passed down from a parent to a child.

These mutations can occur in either of the two copies of a tumor-suppressor gene called RB1, which normally prevents cells from growing and dividing too quickly. When both copies of the RB1 gene are mutated, the cells in the retina can start to grow and divide uncontrollably, leading to retinoblastoma.

In about 40% of cases, retinoblastoma develops spontaneously, meaning that there is no family history of the disease.

This form of the disease, known as unilateral retinoblastoma, affects only one eye and is usually caused by a random mutation that occurs during fetal development. In rare cases, retinoblastoma can also occur as a secondary cancer in adults who have received radiation therapy for other types of cancer.

What are the Symptoms of Retinoblastoma?

The symptoms of retinoblastoma can vary depending on the size and location of the tumor, as well as whether one or both eyes are affected. Some common signs of retinoblastoma in children include:.

A visible white reflection in the eye, known as “cat’s eye reflex” or “leukocoria”
A noticeable increase in the size of one eye
An eye that is constantly watering or appears red or swollen
Poor vision or inability to see colors or fine details (in advanced cases)

If any of these symptoms are present, it is important to see a physician or ophthalmologist right away for a diagnosis.

How is Retinoblastoma Diagnosed?

Diagnosing retinoblastoma typically begins with a comprehensive eye exam, during which an ophthalmologist will examine the eye using a specialized magnifying lens called an indirect ophthalmoscope.

If retinoblastoma is suspected, additional tests may be ordered, such as:.

Ultrasound imaging: This uses high-frequency sound waves to create an image of the inside of the eye, allowing doctors to see if there is a tumor present.
MRI or CT scan: These imaging tests use magnetic fields and computer technology to produce detailed images of the brain and eye, which can help doctors determine if the cancer has spread beyond the eye.
Biopsy: This involves removing a small sample of tissue from the eye and examining it under a microscope to confirm a diagnosis of retinoblastoma.

What Are the Treatment Options for Retinoblastoma?

The treatment of retinoblastoma depends on the size and location of the tumor, as well as whether one or both eyes are affected. Some common treatment options include:.

Chemotherapy: This involves using drugs to kill cancerous cells, either by injecting them directly into the bloodstream or through a catheter that is inserted into an artery near the eye. Chemotherapy can also be given in pill form for less advanced tumors.
Radiation therapy: This uses high-energy particles or waves to kill cancerous cells. Radiation therapy may be delivered to the eye from outside the body (external radiation), or directly to the tumor using radioactive materials that are implanted in the eye (brachytherapy).
Surgery: In some cases, retinoblastoma may be treated with surgery to remove the affected eye (enucleation) or to remove the part of the retina containing the tumor (local resection).

In addition to these standard treatments, clinical trials may be available to test new therapies or combinations of treatments for retinoblastoma.

It is important to discuss all treatment options with your child’s physician to determine the best course of action.

What Are the Risks for Children with Retinoblastoma?

The most obvious risk for children with retinoblastoma is the potential loss of their vision or their eye. However, other risks may also be associated with this disease, including:.

The spread of cancer to other parts of the body, such as the brain, bones, or liver
The development of a second cancer later in life, either in the same eye or in another part of the body
Possible cognitive or developmental delays as a result of chemotherapy or radiation therapy
Psychological effects, such as anxiety, depression, or difficulty adjusting to changes in appearance or abilities

For this reason, it is important to monitor children with retinoblastoma closely and to follow up with regular eye exams and screenings to detect any potential problems early on.

Conclusion

Retinoblastoma is a rare but serious form of cancer that can affect children as young as 6 months old. With early diagnosis and appropriate treatment, however, the outlook for children with retinoblastoma is generally good.

If you notice any unusual symptoms in your child’s eye, such as a white reflex or changes in size or appearance, it is important to see a physician or ophthalmologist right away for a diagnosis.