Retinoblastoma (retinal cancer) in children: symptoms, diagnosis, and treatment
Retinoblastoma in children often begins with a sign that parents notice by accident. In photographs, a white pupil appears instead of the usual red glare, the eye begins to squint, or the child's focus decreases. These can be signs of a retinal tumor, so the only safe approach is to quickly take the child to an ophthalmologist.
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Why does retinoblastoma occur: causes and risk factors
The disease is caused by changes in retinal cells, causing them to divide uncontrollably. Most often, it is caused by a genetic mutation in the RB1 gene. The tumor is not related to gadgets, reading, vaccinations, diet, or poor care.
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Hereditary form and genetic predisposition
The hereditary form is associated with a change in the RB1 gene in the child's cells. It often manifests earlier, can affect both eyes, and may involve multiple lesions. Familial retinoblastoma is a reason for early monitoring.
If the risk is confirmed, the doctor schedules examinations and explains to the family when an unscheduled consultation is necessary.
- Sporadic form and developmental features The sporadic form occurs without a known family history. It most often affects one eye, but even if the condition is unilateral, a doctor may recommend genetic testing.
The first symptoms of retinoblastoma: what parents should pay attention to
The symptoms of retinoblastoma don't always resemble a serious illness. A young child may not complain, so parents often notice changes—from photographs, behavior, or eye position.
White pupil (leukocoria)
A white pupil, or leukocoria, is one of the most noticeable signs. In a photo with a flash, one pupil appears red, and the other white, yellowish, or gray. Sometimes, an unusual "glare" is visible even without a camera.
Leukocoria is not unique to tumors, but you can't expect this symptom to resolve on its own. A fundus examination is necessary: the doctor must determine whether the changes are related to the retina or another cause.
Strabismus and decreased vision
Strabismus in retinoblastoma can occur due to damage to the central parts of the retina. The eye becomes less involved in vision and begins to deviate. Sometimes the child brings toys closer or closes one eye.
Vision deterioration in early childhood is difficult to assess without a doctor. If strabismus develops suddenly, worsens, or is accompanied by a white glare in the pupil, an examination is needed immediately.
Redness, pain, tearing, and other warning signs
Redness, pain, tearing, photophobia, or clouding of the anterior segment of the eye usually indicate a more severe condition and require prompt in-person attention.
Your child should be seen by a doctor as soon as possible if:
- White pupil in a photograph or in normal light
- Strabismus
- Sudden deterioration in vision
- Redness, tearing, pain
- Unusual light glare in the eye
Even one of these symptoms is a reason for an in-person examination.
How is retinoblastoma diagnosed?
Diagnosis of retinoblastoma begins with an in-person examination. The doctor needs to visualize the retina, assess the size and location of the tumor, the condition of the other eye, and any signs of tumor spread. Further treatment depends on this information.
Examination by a pediatric ophthalmologist and ophthalmoscopy
During the appointment, the pediatric ophthalmologist checks visual responses, eye position, pupils, and the anterior segment of the eye. An ophthalmoscopy is then performed—an examination of the fundus after dilating the pupil. A pediatric ophthalmic oncologist evaluates the lesion and the retina.
Ultrasound of the eye, MRI and other imaging methods
An ultrasound of the eye helps to clarify the structure of the tumor. An MRI of the orbits is used to understand the extent of the process and the condition of the optic nerve. CT scanning is used with caution due to radiation exposure.
These diagnostic methods answer different questions and therefore often complement each other.
| Method | What it shows | When it is used | Advantages |
|---|---|---|---|
| Fundus examination | Retinal changes | At the initial stage | Fast and informative |
| Ultrasound of the eye | Structure of the formation | To clarify the diagnosis | Painless |
| Orbital MRI | Extent of the process | For in-depth diagnostics | Detailed visualization |
| Genetic testing | Hereditary factor | According to indications | Helps structure monitoring |
After the examination, the doctor compares the data rather than making a conclusion based on a single symptom.
Genetic testing and family counseling
Genetic testing is performed to detect changes in the RB1 gene. This is especially important in cases of bilateral disease, early childhood, or family history. A consultation helps plan the monitoring of the child and relatives.
Modern methods of treating retinoblastoma
Treatment for retinoblastoma is determined by the stage, tumor size, whether one or both eyes are affected, and overall risk. The primary goal is to save the child's life. Preserving the eye and vision is considered when it is safe.
- Organ-preserving treatment Organ-preserving treatment is used if the tumor can be controlled without removing the eye. Treatment options may include chemotherapy, laser treatment, laser photocoagulation, cryotherapy, thermotherapy, or brachytherapy. The choice depends on the size of the lesion and its location.
- Chemotherapy and local methods Chemotherapy can be systemic or local, with the drug delivered closer to the tumor. In specialized settings, intra-arterial and intravitreal methods are used for strict indications. Local methods also have limitations.
- When surgical treatment is required Surgical treatment isn't always necessary. However, if the tumor is large, has a high risk of spread, or if it's impossible to preserve eye function, the doctor may recommend enucleation. Enucleation is the removal of the eyeball after a full examination.
General information
Why is it important to treat retinoblastoma as early as possible?
Early diagnosis gives doctors more options. While the tumor is limited to the eye, there's a higher chance of choosing a less traumatic approach and preserving at least some vision. Late treatment increases the risk of complications.
What are the benefits of early diagnosis and early treatment?
Early treatment helps confirm the diagnosis more quickly, determine the stage, and begin treatment for retinoblastoma before it becomes severe. Families receive a clear plan for examination, treatment, and monitoring.
How we help preserve the eye and vision?
We don't promise to preserve the eye and vision in every situation. Our goal is to quickly diagnose, use a multidisciplinary approach, and choose a medically justified treatment plan.
FAQ
What is retinoblastoma and why is it dangerous?
What are the first symptoms of retinoblastoma that should alert parents?
How is a retinoblastoma diagnosis confirmed?
Is it possible to save the eye and vision with retinoblastoma?
An urgent consultation is necessary if your child develops a white pupil, new strabismus, rapid vision loss, pain, redness, tearing, or an unusual light glare. Do not administer eye drops without a prescription, warm the eye, or wait several weeks.
At "K+31," if retinal cancer is suspected, the doctor will examine the child, evaluate both eyes, conduct a fundus examination, and determine the need for an ocular ultrasound, orbital MRI, and an ophthalmic oncologist consultation. Parents will then receive a diagnosis, treatment, and follow-up plan.
Clinical Guidelines of the Ministry of Health of the Russian Federation — https://cr.minzdrav.gov.ru/
Ministry of Health of the Russian Federation — https://minzdrav.gov.ru/
CyberLeninka (search on retinoblastoma) — https://cyberleninka.ru/
eLIBRARY - https://elibrary.ru/
Russian Medical Journal - https://www.rmj.ru/
Publishing Media Sphere Group — https://mediasphera.ru/
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