Retinoblastoma (malignant tumor of the retina)
Retinoblastoma of the eye is a rare but serious disease in young children. The tumor develops from immature retinal cells and requires diagnosis.
K+31 specialists approach each case individually, involving ophthalmologists, oncologists, and geneticists specializing in ocular oncology.
specialists
equipment
treatment
Causes of the disease
The exact causes are not fully understood, but retinal cancer in children is associated with changes in the RB1 gene, which is responsible for retinal cell division. Depending on the mutation, two forms of the disease are distinguished.
Hereditary Retinoblastoma
Hereditary retinoblastoma occurs when the RB1 gene mutation is present in all cells of the body and is often passed from parent to child. This form often affects both eyes and manifests earlier, so families with a history of the disease are recommended to undergo genetic counseling before birth.
Sporadic Retinoblastoma
The sporadic form is more common and is associated with a random mutation in a single retinal cell after conception. It usually affects one eye, and the risk for siblings is low. Genetic testing can help differentiate between the two forms.
Symptoms of retinoblastoma
The clinical presentation depends on the size and location of the tumor. Only an ophthalmologist can detect an eye tumor in a child at an early stage, while parents themselves can notice later signs. This is why the symptoms of retinoblastoma should not be underestimated.
White pupillary reflex
The most well-known sign is a white pupil in photographs with a flash, instead of a red gleam. In the literature, this is called leukocoria: light reflects off the tumor inside the eye. Parents often notice this feature in photographs.
Strabismus
If the tumor affects the central area of the retina, visual acuity in one eye is impaired, and the brain stops using it as well as the other eye. The eye deviates to the side—this is what causes strabismus, sometimes the only early sign of the disease.
Vision Decreased
A child rarely complains of poor vision, so the decrease in visual acuity may go unnoticed for a long time. Awkwardness when playing and a reluctance to look out of one eye should be cause for concern.
Eye Pain and Redness
In the later stages, when the tumor blocks fluid drainage, pressure in the eye increases, causing redness, tearing, and pain. This requires an urgent visit to an ophthalmologist.
Symptoms of retinoblastoma can sometimes be confused with common strabismus or conjunctivitis. Parents often first notice a tumor in their child's eye in flash-lit photographs. Early treatment affects the outcome of treatment and the chances of saving the eye. Consult a specialist if your child exhibits any of the following signs:
- White pupil
- Strabismus
- Sudden decrease in vision
- Redness and soreness of the eye
- Change in the appearance of the eyeball
None of these signs alone confirms the diagnosis, but each is a reason to consult an ophthalmologist in the coming days.
General information
Retinoblastoma Diagnosis
An examination confirms the diagnosis and determines its extent. Retinoblastoma diagnosis combines physical examination, imaging techniques, and laboratory tests, and helps confirm a malignant retinal tumor. It follows the following sequence:
- Consultation with a pediatric ophthalmologist and medical history collection
- Ophthalmological examination with pupil dilation
- Ultrasound of the eyeball
- MRI of the orbits and brain
- Genetic testing of the RB1 gene
This procedure helps determine the size and location of the tumor and plan treatment.
Specialist Consultation
The appointment begins with a discussion: the doctor clarifies the patient's complaints and family history. If a hereditary form of the disease is suspected, a consultation with an oncologist and geneticist is prescribed.
Ophthalmological examination
The main method is a fundus examination under medically dilated pupils. The doctor examines the fundus and assesses the tumor, including its size and location. Any retinal tumor detected during examination requires clarification of its boundaries.
Ultrasound diagnostics
Ultrasound of the eyeball clarifies the structure of the tumor and helps distinguish a tumor from other causes of leukocoria, such as hemorrhage. This method is safe and usually does not require anesthesia.
MRI and other imaging techniques
MRI of the orbits and brain is necessary for large tumors or suspected spread beyond the eye. Imaging helps rule out combined brain tumors in the hereditary form of the disease.
Genetic Testing
Genetic diagnostics identifies the RB1 gene mutation in the child's blood and in the parents. The results determine the monitoring strategy for the other eye and allow for genetic counseling for the family.
"In our practice, we regularly encounter situations where timely screening allows us to detect retinoblastoma at an early stage. A comprehensive approach, modern diagnostics, and collaborative work between specialists help us choose the most effective treatment strategy for each patient."
Prognosis for retinoblastoma
Retinal cancer in children is more treatable with early treatment. The outcome depends on several factors.
Factors Affecting Prognosis
The outcome is influenced by the size and location of the tumor, its spread beyond the eye, the type of disease, and the time of initiation of therapy. Bilateral disease and advanced stages require intensive treatment.
The Importance of Early Detection
Early tumor detection increases the chances of preserving the eye and vision, not just the child's life. Timely diagnosis of retinoblastoma reduces the risk of spread beyond the orbit, so we recommend prompt examination.
Post-Treatment Monitoring
After treatment, the child remains under the care of an ophthalmologist and oncologist for several years. Regular monitoring includes:
- Fundus examination, taking into account the child's age
- Ultrasound and, if necessary, MRI of the orbits according to a schedule
- Visual function assessment of each eye
- Genetic counseling when planning children
- Monitoring of the child's general condition and development
The frequency of examinations decreases as the child ages, but monitoring continues for years.
Benefits of an integrated approach
Treating this type of tumor requires experience and a well-coordinated organization. By contacting our center, patients and their families receive:
- An interdisciplinary team of oncologists, ophthalmologists, and geneticists
- A personalized examination program for each child
- Modern imaging techniques and treatment effectiveness monitoring
- Availability to obtain a second medical opinion
- Support at all stages of treatment and monitoring
- Adherence to clinical guidelines and evidence-based medicine
This approach speeds up and improves the accuracy of decisions when time is of the essence.
Answers to frequently asked questions
Here we have collected frequently asked questions from parents.
What is retinoblastoma?
What symptoms may indicate retinoblastoma?
Can retinoblastoma be cured?
Is follow-up necessary after treatment?
References
- Clinical Guidelines of the Ministry of Health of the Russian Federation — Retinoblastoma — https://cr.minzdrav.gov.ru
- Category of Clinical Guidelines of the Ministry of Health of the Russian Federation — https://cr.minzdrav.gov.ru/#!/rubricator
- Russian Society of Clinical Oncology (RUSSCO) — https://rosoncoweb.ru
- Association of Oncologists of Russia — https://oncology-association.ru
- N.N. Sechenov National Medical Research Center of Oncology Blokhin Russian National Research Center for Ophthalmology and Cardiology of the Russian Ministry of Health — https://www.ronc.ru
- Federal State Budgetary Institution "National Medical Research Center of Eye Diseases" — https://eye-center.ru
- CyberLeninka — scientific publications on retinoblastoma — https://cyberleninka.ru
- PubMed (Russian-language reviews and translations of materials, if available) — https://pubmed.ncbi.nlm.nih.gov
- Electronic Medical Library eLIBRARY — https://elibrary.ru
- Federal Electronic Medical Library — https://femb.ru
Our doctors
This award is given to clinics with the highest ratings according to user ratings, a large number of requests from this site, and in the absence of critical violations.
This award is given to clinics with the highest ratings according to user ratings. It means that the place is known, loved, and definitely worth visiting.
The ProDoctors portal collected 500 thousand reviews, compiled a rating of doctors based on them and awarded the best. We are proud that our doctors are among those awarded.
Make an appointment at a convenient time on the nearest date
Price
Other services
Appointment to the doctor
Reviews
Our clinics
Application “Personal Account K+31”
