Retinoblastoma is a malignant tumor seen in childhood, developing in the retinal layer of the eye. If detected early, it may be possible to preserve both the child's life and vision functions. Therefore, having accurate and reliable information about retinoblastoma is crucial, especially for parents.
What is Retinoblastoma?
Retinoblastoma is a tumor that develops in the retinal layer located at the back of the eye, playing a fundamental role in vision. The retina consists of cells that perceive light and transmit it to the brain. Due to a genetic disorder occurring in these cells, uncontrolled cell proliferation may develop, leading to retinoblastoma.
The disease is usually observed during infancy and early childhood. It can develop in one eye (unilateral) or both eyes (bilateral). In cases where both eyes are affected, there is a higher probability of genetic inheritance.
What Causes Retinoblastoma?
The primary cause of retinoblastoma is the mutation of a gene called RB1. This gene has the task of preventing the uncontrolled proliferation of retinal cells. This disruption in genetic structure can manifest in two different ways:
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Hereditary (genetic) retinoblastoma: It can develop as a result of a genetic mutation passed down from the family. In this case, the disease may affect both eyes and may be observed at an earlier age.
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Sporadic (random) retinoblastoma: It can develop solely due to a mutation occurring in the retinal cells without a family history. Often, only one eye is affected.
For individuals with a family history, early and regular eye examinations are important.
What are the Symptoms of Retinoblastoma?
The symptoms of retinoblastoma often manifest with visual signs that catch the attention of parents. The most common symptoms are:
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White reflection in the pupil (leukocoria): Noticing a white glare in the flash during photography is one of the most significant findings.
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Eye misalignment (strabismus): Particular attention should be paid to the emergence of eye misalignments not previously present.
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Redness or swelling in the eye: Unexplained, prolonged redness is important.
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Visual problems: Indirectly in infants; signs like inability to focus on toys or covering one eye may be observed.
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Sensitivity to light
How is Retinoblastoma Diagnosed?
Retinoblastoma diagnosis can be established through a detailed eye examination. Fundoscopic evaluation forms the basis of the diagnostic process. Additional tests may be performed to clarify the diagnosis and evaluate the spread of the disease if deemed necessary.
During the diagnostic process:
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The intraocular structures are examined in detail
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Imaging methods may be utilized
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Genetic evaluation may be required
How is Retinoblastoma Treatment Planned?
Retinoblastoma treatment is planned considering various factors such as the stage of the disease, size of the tumor, whether one or both eyes are affected, and the overall health condition of the child. The treatment process requires a multidisciplinary approach.
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Chemotherapy: It can be used for shrinking or controlling the tumor.
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Laser therapy and cryotherapy: Local treatment methods that can be preferred for smaller and limited tumors.
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Radiotherapy: Considered in special and limited circumstances.
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Surgical treatment: Preferred in advanced stage cases where the preservation of visual function is not possible.
Frequently Asked Questions
Is Retinoblastoma Genetic?
Some retinoblastoma cases are of genetic inheritance. A genetic evaluation should be conducted, especially in cases where both eyes are affected.
At What Age is Retinoblastoma Seen?
Retinoblastoma is typically seen in the first years after birth, in children under the age of 5. Some cases are diagnosed during infancy.
Is Retinoblastoma Observed in One Eye or Both Eyes?
Retinoblastoma can occur in one eye or both eyes. In cases where both eyes are affected, the likelihood of genetic transmission may be higher, requiring closer monitoring.
How Long Does Retinoblastoma Treatment Last?
The duration of treatment can vary depending on the stage of the disease, the methods applied, and the response to treatment. While short-term treatment may be sufficient for some patients, a longer monitoring process may be necessary in other cases.
