Does retinoblastoma cause blindness? Effects and treatment

Does Retinoblastoma Cause Blindness? Effects on Vision, Treatment Options & Long-Term Outlook

Retinoblastoma may be rare, but for families facing a diagnosis, it can be a frightening and life-altering experience. This type of cancer most commonly affects young children, typically under the age of five. While it starts in the eye, if left untreated, retinoblastoma can lead to blindness—and in severe cases, it can even become life-threatening.

But here’s the hopeful news: with early diagnosis and advances in treatment, the outlook for children with retinoblastoma has drastically improved. Today, more than 95% of children diagnosed with this cancer in the U.S. survive.

In this article, we’ll break down how retinoblastoma affects the eyes, whether it leads to blindness, how it’s treated, and what you can expect moving forward.

Understanding Retinoblastoma: What It Is and How It Affects the Eyes

Retinoblastoma is a malignant tumor that develops in the retina—the thin layer of nerve tissue at the back of the eye responsible for converting light into signals for the brain. It typically begins when immature retinal cells, called retinoblasts, mutate and grow uncontrollably.

This type of cancer can affect one eye (unilateral retinoblastoma) or both eyes (bilateral retinoblastoma). Regardless of laterality, if untreated, the tumor can expand within the eye, damage surrounding tissues, and eventually cause total loss of vision.

Impact on Eye Function

Tumor Growth: As tumors grow, they disrupt the normal structure and function of the eye.
Increased Eye Pressure: Tumor buildup can block fluid circulation, raising intraocular pressure and sometimes triggering secondary glaucoma, a condition that also threatens vision.
Structural Damage: The expanding tumor can distort the eyeball, retina, and optic nerve, significantly compromising visual acuity.

In some cases, the cancer can even spread beyond the eye, which underscores the importance of early intervention.

Can Retinoblastoma Cause Blindness? What the Research Says

The risk of blindness depends on how advanced the cancer is and whether one or both eyes are involved.

Unilateral Retinoblastoma

Affects only one eye.
Does not usually cause total blindness, as the other eye typically retains full function.
Vision in the affected eye may be partially or fully lost, depending on the tumor’s size and location.

Bilateral Retinoblastoma

Involves both eyes.
Has a much higher risk of blindness, especially if tumors are located in or near the macula, the area responsible for sharp central vision.

According to a 2018 study involving 44 children with bilateral retinoblastoma:

38% had some degree of visual impairment.
19% experienced total blindness.
The presence of tumors in both maculas strongly increased the risk of blindness.

So while retinoblastoma can lead to blindness, early and aggressive treatment greatly improves the chances of preserving at least partial vision.

Hereditary vs. Non-Hereditary Retinoblastoma: Does Genetics Matter?

Yes, genetics play a major role in how this disease presents and progresses.

Hereditary Retinoblastoma

Caused by inherited mutations in the RB1 gene.
Represents about 40% of all cases.
Often affects both eyes.
Carries a higher risk of multiple tumors forming and of cancer spreading to other body parts.
Children with hereditary retinoblastoma may also have an increased lifetime risk of developing other types of cancer.

Non-Hereditary Retinoblastoma

Arises from a random genetic mutation.
Accounts for about 60% of cases.
Typically affects only one eye.
Less likely to be passed on to future children.

Understanding whether a child has hereditary or non-hereditary retinoblastoma helps guide monitoring, treatment, and genetic counseling for families.

Treatment Options for Retinoblastoma

The good news is that retinoblastoma is one of the most treatable childhood cancers, especially when detected early. Treatment strategies aim to:

Eliminate the tumor
Preserve the eye (if possible)
Save as much vision as possible
Prevent the cancer from spreading

Let’s look at the primary treatment options in more detail.

1. Chemotherapy

This is often the first line of defense and comes in several forms:

Systemic Chemotherapy: Delivered through the bloodstream to attack cancer throughout the body.
Intra-Arterial Chemotherapy: A catheter delivers the drug directly into the artery feeding the eye, minimizing side effects elsewhere.
Intravitreal Chemotherapy: Direct injection into the eye for targeting resistant tumor cells.

Chemotherapy can shrink tumors enough to make other treatments more effective—or even avoid surgery.

2. Laser Therapy (Thermotherapy)

This method uses heat to destroy tumor cells. It’s best for small, localized tumors and is often combined with chemotherapy.

3. Cryotherapy

Here, a freezing probe is applied to the eye to freeze and destroy the tumor. This is particularly effective for peripheral tumors.

4. Radiation Therapy

Although less common today due to potential long-term side effects, brachytherapy (placing a small radioactive implant behind the eye) may be used in certain cases.

5. Surgery (Enucleation)

When other treatments fail or if the eye is too damaged to be saved, removal of the eye may be necessary. An artificial eye is typically fitted after healing.

While this can be emotionally difficult for families, it’s a life-saving option that can prevent the cancer from spreading to the brain or elsewhere.

When Should You See a Doctor? Early Warning Signs of Retinoblastoma

Retinoblastoma often develops in infants or toddlers under the age of 2, making it challenging to diagnose based on a child’s description of symptoms. However, there are clear visual signs parents and caregivers should watch for:

Signs to Look Out For

White glow in the pupil (leukocoria), often seen in photos where one eye reflects white instead of red.
Crossed or misaligned eyes (strabismus)
Poor vision or tracking ability
Eye redness or swelling
Larger or smaller pupil in one eye

If your child has any of these symptoms—or has a family history of retinoblastoma—schedule an eye exam immediately. Early detection is key.

Diagnostic Tools

Eye exams by a pediatric ophthalmologist
MRI or ultrasound scans of the eyes
Genetic testing for RB1 mutations

Outlook and Long-Term Prognosis

Thanks to medical advancements, the survival rate for retinoblastoma in the United States is now over 95%. That said, the outlook for vision depends on several factors:

Whether one or both eyes are affected
The tumor’s location within the eye
The speed of diagnosis and treatment
The child’s response to therapy

Life After Treatment

Children with unilateral retinoblastoma typically live normal lives with vision in the remaining eye.
Those with bilateral cases may require long-term visual aids, therapy, or special education services.
Regular follow-ups are crucial for monitoring recurrence or secondary cancers, especially in hereditary cases.

Conclusion

Retinoblastoma is a serious but highly treatable form of childhood eye cancer. With prompt diagnosis and advanced treatment, most children go on to live full and healthy lives. While vision loss and even blindness are possible—especially in bilateral cases—early medical intervention can significantly reduce these risks.

If your child shows signs of visual problems or has a family history of retinoblastoma, don’t wait. Early detection can make all the difference.

FAQs

1. Can retinoblastoma be completely cured?
Yes, with early diagnosis and treatment, retinoblastoma has a very high cure rate—over 95% in developed countries.

2. Does every case of retinoblastoma lead to blindness?
No. Many children retain partial or full vision, especially if only one eye is affected. Blindness is more common in untreated or bilateral cases.

3. What is the first sign of retinoblastoma?
Often, a white reflection in the pupil (visible in flash photos) is the first noticeable sign.

4. Is retinoblastoma hereditary?
About 40% of cases are hereditary. If there’s a family history, genetic testing and regular screening are recommended.

5. Can a child live a normal life after retinoblastoma treatment?
Yes, most children lead normal lives. Some may need visual aids or extra support, but survival and quality of life are typically excellent with proper care.

Does retinoblastoma cause blindness? Effects and treatment