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Cancer, Retinoblastoma

Overview

Your eye is a small, intricate part of your body, about an inch across. It gathers a huge amount of information about the world around you, and your brain quickly interprets it.

Retinoblastoma is a type of cancer that starts in the retina, the light-sensitive layer at the back of your eye.

Think of the retina as a special lining in your eye that's like a tiny film. It's made of nerve cells that detect light coming into your eye. When light hits the retina, it sends messages to your brain. Your brain then turns these messages into the images you see.

Retinoblastoma most often appears in young children, typically diagnosed before they turn two. Usually, it affects just one eye, but sometimes it can be found in both.

Fortunately, there are effective treatments for retinoblastoma. In many cases, removing the eye isn't necessary to treat the cancer. The chances of recovery for children with retinoblastoma are very good.

Symptoms

Retinoblastoma is a type of eye cancer that can affect children. One of the first signs of retinoblastoma is a white or reflective spot in the middle of the eye when a light is shined on it. This might be noticeable in pictures taken with a flash. Other potential symptoms include:

  • Redness: The eye might look red or inflamed.
  • Swelling: The eye itself, or the area around it, might look swollen.
  • Uneven gaze: The eyes might not be looking in the same direction, or one eye might be turned in a different direction than the other.
  • Vision problems: The child might have trouble seeing clearly or experience a loss of vision in one or both eyes.

If you notice any of these signs in a child's eye, it's crucial to see a doctor right away. Early diagnosis and treatment are very important for successful outcomes.

When to see a doctor

If you see anything unusual or worrying about your child's eyes, schedule a visit with their doctor or eye doctor.

Causes

Retinoblastoma is a type of eye cancer that happens when cells in the eye's retina develop abnormal instructions. We don't always know exactly why these changes occur.

Imagine your body's cells like tiny workers with instructions written in their DNA. Healthy cells have instructions to grow and multiply at a specific rate, and to die at a set time. This keeps things balanced. But in retinoblastoma, the DNA instructions in some eye cells get altered. These changed instructions tell the cells to grow and divide much faster than normal. These "cancer" cells also ignore the instructions to die, leading to an uncontrolled buildup of cells.

The retina is a special layer at the back of your eye. It's like the film in a camera, detecting light that enters your eye. This light information is sent to your brain, which creates the images you see. In retinoblastoma, the abnormal cells gather in the retina, forming a tumor.

This tumor can grow bigger and spread into surrounding healthy tissue. In rare cases, cancer cells can break off and travel to other parts of the body. This spread of cancer is called metastasis. Importantly, retinoblastoma rarely spreads, especially when detected early.

Most of the time, we don't know what causes these DNA changes that trigger retinoblastoma. However, a child might inherit these altered instructions from a parent, which can increase their risk of developing the condition.

Risk factors

Retinoblastoma is a type of eye cancer that mostly affects young children. It's most often diagnosed in children under two years old. Cases diagnosed later in life are very uncommon.

There are some risk factors that make a child more likely to develop retinoblastoma. One key risk factor is a child's age. As mentioned, most cases are found in very young children.

Another important risk factor is a family history of DNA changes linked to retinoblastoma. Certain variations in a child's DNA can be passed down from their parents. If a child inherits these specific DNA changes, they have a higher chance of developing retinoblastoma, and it's more likely to affect both eyes. These inherited DNA changes also often lead to the cancer appearing at a younger age.

Complications

Retinoblastoma, a type of eye cancer in children, can sometimes cause problems after treatment.

A risk exists that the cancer could return in or near the eye. To address this, the medical team creates a schedule of follow-up visits. The exact follow-up plan depends on the specific treatments given. A common plan includes eye exams every few months for the first several years after treatment. This helps doctors monitor the eye and look for any signs of the cancer returning.

Some forms of retinoblastoma have a family link, which may increase the child's risk of developing other types of cancer later in life.

Children with a family history of retinoblastoma might be more likely to get certain other cancers. These include:

  • Bone cancer
  • Bladder cancer
  • Breast cancer
  • Hodgkin lymphoma
  • Lung cancer
  • Melanoma
  • Pineoblastoma
  • Soft tissue sarcoma

To help detect these potential future cancers early, the medical team might recommend specific tests or screenings. This proactive approach can help catch any problems early, when treatment is more likely to be successful.

Prevention

Retinoblastoma can't be prevented. Sometimes, it's caused by certain DNA changes that can be passed down through families. If retinoblastoma runs in your family, it's important to talk to your doctor. Together, you might consider genetic testing. This test looks for specific variations in your DNA that could increase your risk. Your doctor might recommend a genetic counselor or other specialist in genetics to help you understand the test and decide if it's right for you.

If your family has a history of retinoblastoma, and you have children or plan to have them, you can take steps to manage the risk. For example, your children might need eye exams soon after birth. Early detection is key. Finding retinoblastoma when it's small greatly improves the chances of successful treatment.

Even if you don't have children yet, but are planning to have them, discussing your family history of retinoblastoma with your doctor is important. Genetic testing can help you and your partner understand if there's a risk of passing on these DNA variations to your future children. Your doctor can advise you on ways to manage that risk.

Diagnosis

Diagnosing retinoblastoma often begins with a thorough eye exam. Doctors carefully examine the child's eyes, checking their vision and using a special light to look inside. Sometimes, especially with young children, it's difficult to keep them still for a complete exam. In such cases, the healthcare team might recommend a sedative to help the child relax and cooperate during the exam. This eye exam helps the medical team understand what's causing the child's symptoms.

To get a better picture of the problem, doctors use imaging tests. These tests create images of the inside of the body. For retinoblastoma, imaging tests are crucial for seeing the eye and the surrounding area. These images help determine the size of the tumor and whether it has spread beyond the eye. Common imaging tests for retinoblastoma include ultrasound and MRI scans.

Genetic testing is another important tool. It looks at a child's DNA, the instructions for building their body, using a sample of blood or saliva. For retinoblastoma, genetic testing specifically checks for changes in a particular DNA segment called the RB1 gene.

Everyone with retinoblastoma has changes in their RB1 gene in the cancer cells. However, in some cases, these changes aren't just in the tumor cells; they're present in all the child's cells. This can happen if the child inherits these changes from their parents or if something goes wrong with the RB1 gene during fetal development.

If genetic testing reveals that the RB1 gene changes are present in all the child's cells, this crucial information helps the medical team plan the best treatment approach. Knowing this also means the child has a higher risk of developing other types of cancer later in life. Regular check-ups and screening tests can help doctors monitor for these potential future problems.

Treatment

Retinoblastoma Treatment Options for Children

Retinoblastoma is a type of eye cancer that can affect children. Several treatments are available, and the best one for a child depends on many things. These include how big the cancer is, where it's located, and whether it's spread beyond the eye. The child's overall health and the family's preferences are also considered.

Common treatments for retinoblastoma include:

  • Chemotherapy: This uses strong medicines to kill cancer cells. It's often the first treatment, and more may be needed to remove any remaining cancer cells. There are different ways chemotherapy medicines are given:

    • Systemic Chemotherapy: Medicines are given through a vein or in pill form, traveling throughout the body to kill cancer cells. This is usually done monthly for several months.
    • Intra-arterial Chemotherapy: Medicines are delivered directly to the eye through a small tube inserted into an artery in the groin. This method targets the cancer more precisely. It is also usually done monthly for a few months.
    • Intravitreal Chemotherapy: Medicines are injected directly into the eye. This is typically used after other chemotherapy to target remaining or recurring cancer cells.
  • Cryotherapy (Cold Therapy): This uses extreme cold to damage cancer cells. It's often used after chemotherapy to eliminate any remaining cells. For very small cancers, it might be the only treatment needed. A cold instrument is placed on the eye, freezing and thawing the affected tissue. This process is repeated.

  • Laser Therapy (Transpupillary Thermotherapy): A laser heats up and damages cancer cells. Similar to cryotherapy, it's usually used after chemotherapy for remaining cancer cells. For very small cancers, it might be the only treatment. Treatments happen repeatedly until the cancer is gone.

  • Radiation Therapy: This uses powerful energy to kill cancer cells. There are two main types:

    • Plaque Radiotherapy: A small, radiation-emitting disk is placed directly on the eye. This targets the cancer while reducing the risk of harming healthy tissue around the eye. This is often used when chemotherapy doesn't work.
    • External Beam Radiation: A machine delivers radiation beams to the cancer. This is often used when the cancer has spread beyond the eye. Treatments are usually given daily for several weeks.
  • Surgery: Removing the eye (enucleation) is a last resort. This is considered when other treatments haven't worked or when the cancer is too large. It can help prevent the cancer from spreading. If the eye is removed, an implant and an artificial eye are fitted to help maintain the appearance and function of the eye socket.

Important Considerations:

  • Individualized Treatment: The best treatment plan is tailored to each child's specific situation. Doctors consider the cancer's size, location, spread, the child's health, and family preferences.
  • Side Effects: All treatments can have side effects. For example, radiation therapy might affect healthy tissues around the eye.
  • Clinical Trials: Clinical trials test new treatments and strategies. These can offer the latest options, but they don't guarantee a cure. Parents should discuss clinical trial options with their child's doctor.

Coping with a Cancer Diagnosis:

A cancer diagnosis can be overwhelming. It's normal to feel a range of emotions like shock, disbelief, guilt, or anger. Seek support from:

  • Healthcare Team: Talk with doctors and nurses. Ask questions and gather information.
  • Family and Friends: Lean on your support network.
  • Resources: Organizations like the National Cancer Institute and the American Cancer Society offer helpful information and support.
  • Support Groups: Connect with other families facing similar challenges.
  • Maintaining Routine: For children, maintaining a regular schedule can help them cope with the stress of treatment.

Remember, you're not alone. Your child's medical team and support networks can help you navigate this difficult time.

Preparing for your appointment

If you're worried about your child's health, schedule a visit with their doctor right away. If there's a concern about their eyes, you might be referred to a doctor who specializes in eye care. This doctor is called an ophthalmologist. If retinoblastoma (a type of eye cancer) is suspected, your child might see a specialist in treating eye cancer called an ocular oncologist.

Getting Ready for the Appointment

Appointments are often quick, so being prepared is key.

  • Check for restrictions: When you schedule the appointment, ask if there are any special instructions, like dietary changes, your child needs to follow beforehand.
  • Write down everything: List all the symptoms your child is experiencing, even if they seem unrelated to the reason for the appointment. Be specific. For example, instead of "headaches," write "frequent headaches, throbbing pain on the right side, worse in the morning."
  • Important background information: Note down important details about your child's life, like any major stresses or recent changes. This helps the doctor understand the bigger picture.
  • Medication list: Make a list of all medications, vitamins, and supplements your child takes.
  • Bring a support person: It can be hard to remember everything during a short appointment. Having a family member or friend with you can help you recall important details.
  • Prepare your questions: Write down questions you want to ask the doctor. Prioritize the most important questions, in case time is limited.

Important Questions to Ask (Example - Retinoblastoma)

  • What tests does my child need?
  • What is the recommended treatment plan?
  • What are other treatment options besides the suggested one?
  • Should my child see a specialist?

Questions the Doctor Might Ask

The doctor will likely ask you questions about your child's health history. Be prepared to answer them honestly.

  • Has your child ever had cancer before?
  • Does your family have a history of cancer?
  • Does your child have any siblings? If so, are they old enough to have had their own eye exams?
  • When did the symptoms start?
  • Were the symptoms continuous or occasional?
  • How severe are the symptoms? (Describe the severity—mild, moderate, severe).
  • What seems to make the symptoms better?
  • What seems to make the symptoms worse?

By being prepared with this information, you can have a productive appointment and get the best possible care for your child.

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Disclaimer: August is a health information platform and its responses don't constitute medical advise. Always consult with a licenced medical professional near you before making any changes.

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