What is Retinoblastoma? Symptoms, Causes, & Treatment

What is retinoblastoma?

Retinoblastoma is a rare eye cancer that develops in the retina, the light-sensitive tissue at the back of your eye. This cancer primarily affects young children, with most cases diagnosed before age 5.

Think of the retina as your eye's camera film. When cells in this area grow abnormally, they can form tumors that interfere with vision. The good news is that retinoblastoma is highly treatable when caught early, and many children go on to live completely normal lives.

This cancer can affect one eye or both eyes. When it occurs in both eyes, it's usually present from birth due to genetic factors. Single-eye cases often develop later and aren't typically inherited.

What are the symptoms of retinoblastoma?

The most common sign parents notice is an unusual white glow or reflection in their child's eye, especially in photographs taken with flash. This white pupil appearance, called leukocoria, shows up instead of the normal red-eye reflection.

Here are the key symptoms to watch for:

• White glow in the pupil, particularly visible in flash photos
• Eyes that don't move together or seem to wander (strabismus)
• Redness or swelling around the eye
• Vision problems or complaints about not seeing clearly
• Eye pain, though this is less common in early stages

Some children may also experience more subtle changes like increased tearing or sensitivity to light. In rare cases, the tumor can grow large enough to cause the eye to appear bigger than normal.

Remember that many of these symptoms can have other, less serious causes. However, any persistent changes in your child's eyes deserve a prompt evaluation by your pediatrician or an eye specialist.

What causes retinoblastoma?

Retinoblastoma happens when cells in the retina develop genetic changes that cause them to grow uncontrollably. These changes occur in a gene called RB1, which normally helps control cell growth.

About 40% of cases are hereditary, meaning the genetic change gets passed down from parents. Children with hereditary retinoblastoma often develop tumors in both eyes and are at risk for other cancers later in life.

The remaining 60% of cases are sporadic, meaning the genetic change happens randomly during early development. These children typically have tumors in only one eye and don't pass the condition to their children.

It's important to understand that parents don't cause this cancer through anything they did or didn't do. The genetic changes that lead to retinoblastoma occur naturally and aren't preventable.

When should you see a doctor for retinoblastoma concerns?

You should contact your child's doctor immediately if you notice a white glow or unusual reflection in your child's eye, especially if it appears consistently in photographs. This symptom requires urgent evaluation.

Schedule an appointment within a few days if your child develops crossed eyes, vision problems, or persistent eye redness that doesn't improve. While these symptoms often have benign causes, early evaluation ensures nothing serious gets missed.

Don't wait to see if symptoms improve on their own. Retinoblastoma grows quickly, and early detection significantly improves treatment outcomes and preserves vision.

If you have a family history of retinoblastoma, discuss genetic counseling and regular eye screenings with your pediatrician, even if your child has no symptoms.

What are the risk factors for retinoblastoma?

The strongest risk factor is having a parent or sibling with retinoblastoma. Children with an affected family member have a much higher chance of developing this cancer.

Here are the main risk factors:

• Family history of retinoblastoma
• Having the hereditary form of the RB1 gene mutation
• Young age, particularly under 2 years old
• Previous treatment for hereditary retinoblastoma (increases risk of other cancers)

Most children who develop retinoblastoma have no family history of the condition. Age is the most significant factor, as this cancer almost exclusively affects very young children.

Unlike many adult cancers, lifestyle factors don't influence retinoblastoma risk. There's nothing parents can do to prevent or cause this condition.

What are the possible complications of retinoblastoma?

When detected and treated early, most children with retinoblastoma avoid serious complications. However, delayed treatment can lead to vision loss or more serious problems.

Potential complications include:

• Partial or complete vision loss in the affected eye
• Glaucoma (increased pressure in the eye)
• Spread of cancer to other parts of the body
• Need for eye removal to prevent cancer spread
• Development of other cancers later in life (hereditary cases)

Children with hereditary retinoblastoma face a higher risk of developing other cancers, particularly bone cancers and soft tissue sarcomas, as they grow older. This is why long-term follow-up care remains important.

The emotional impact on families can also be significant. Many children and parents benefit from counseling and support groups to help cope with diagnosis and treatment.

How is retinoblastoma diagnosed?

Diagnosis typically begins with a thorough eye examination by an ophthalmologist who specializes in pediatric cases. The doctor will dilate your child's pupils to get a clear view of the retina.

During the exam, your child may need to be sedated or given general anesthesia to remain still. This allows the doctor to thoroughly examine both eyes and take detailed photographs of any abnormal areas.

Additional tests might include ultrasound of the eye, MRI scans to check if cancer has spread, and genetic testing to determine if the case is hereditary. Blood tests can identify children who carry the genetic mutation.

The entire diagnostic process usually takes several days to complete. Your medical team will explain each step and help you understand what the results mean for your child's treatment plan.

What is the treatment for retinoblastoma?

Treatment depends on the tumor's size, location, and whether it affects one or both eyes. The main goals are saving your child's life, preserving the eye when possible, and maintaining as much vision as possible.

Common treatment options include:

• Chemotherapy to shrink tumors before other treatments
• Laser therapy or cryotherapy to destroy small tumors
• Radiation therapy for larger tumors
• Surgical removal of the eye (enucleation) in severe cases
• Intraocular injections of chemotherapy drugs

Many children receive combination treatments tailored to their specific situation. For example, chemotherapy might shrink a large tumor enough that laser therapy can then eliminate it completely.

Treatment typically lasts several months and requires frequent follow-up visits. Your child's medical team will monitor progress closely and adjust the treatment plan as needed.

How can you provide home care during retinoblastoma treatment?

Your main job at home is keeping your child comfortable and maintaining normal routines as much as possible. Treatment can be exhausting, so extra rest and gentle activities work best.

Watch for signs of infection like fever, increased redness, or discharge from the treated eye. Contact your medical team immediately if you notice these symptoms or if your child seems unusually unwell.

Protect your child from falls and eye injuries during treatment. Avoid rough play and consider using protective eyewear during activities. Keep the treated eye clean according to your doctor's instructions.

Maintain regular feeding schedules and offer favorite foods when your child feels well enough to eat. Some treatments can affect appetite, so focus on nutritious options when they're hungry.

How should you prepare for your doctor appointments?

Write down all your questions before each visit, including concerns about treatment side effects, long-term outlook, and daily care instructions. Don't worry about asking too many questions.

Bring a list of all medications your child takes, including over-the-counter items and supplements. Also bring any recent photos showing the white pupil reflection if that's what prompted your visit.

Consider bringing another adult to appointments, especially when discussing treatment options. Having support helps you remember important information and provides emotional comfort during difficult conversations.

Prepare your child age-appropriately for medical visits. Simple explanations about "doctors helping your eyes feel better" work well for young children.

What's the key takeaway about retinoblastoma?

Retinoblastoma is a serious but highly treatable childhood cancer when caught early. The unusual white glow in your child's eye, especially visible in flash photographs, is the most important warning sign to watch for.

Treatment success rates are excellent, with over 95% of children surviving when the cancer hasn't spread beyond the eye. Many children maintain good vision in at least one eye and go on to live completely normal lives.

Trust your instincts as a parent. If something about your child's eyes looks different or concerning, don't hesitate to seek medical evaluation. Early detection makes all the difference in treatment outcomes.

Remember that you're not alone in this journey. Your medical team, family, and support organizations are there to help you navigate treatment and recovery successfully.