It is a rare childhood cancer that develops in the retina, the light-sensitive tissue at the back of the eye. The majority of cases of retinoblastoma are diagnosed before the age of five. Here, we examine its causes, symptoms, diagnosis, treatment, and prevention.
Causes
The primary cause of retinoblastoma is genetic mutations that disrupt the normal development and growth of retinal cells. The risk of retinoblastoma can be increased by inheriting genetic mutations, while sporadic (uninherited) mutations may occur randomly during fetal development. RB1 gene mutations are commonly associated with retinoblastoma, and individuals with a family history of the condition are more likely to develop the condition.
Symptoms
Retinoblastoma symptoms include:
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In flash photography, leukocoria can appear as a white reflection or as a cat's eye.
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Crossed eyes (strabismus): An alignment problem between the eyes, where one eye appears to wander inwards or outwards.
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When the tumor grows and affects the optic nerve, poor vision or blindness can occur in the affected eye.
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Redness or pain in the eye: Inflammation or irritation of the eye may cause pain, redness, or swelling, particularly at an advanced stage.
Diagnosis
During a comprehensive eye examination and diagnostic tests, an ophthalmologist or pediatric ophthalmologist can diagnose retinoblastoma. Diagnostic procedures may include:
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During a dilated eye examination, the inside of the eye is examined for signs of retinoblastoma, such as tumors and abnormal reflections.
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Ultrasounds are useful for detecting intraocular tumors, especially if the retina is obscured by cataracts or clouding of the eye's media.
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CT scan or magnetic resonance imaging (MRI): Imaging tests may be performed to assess the extent of tumor involvement and the spread to nearby structures.
Treatment
Retinoblastoma treatment depends on many factors, including the size and location of the tumor, the extent of disease involvement, and the child's overall health.
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Systemic or intra-arterial chemotherapy can shrink tumors and reduce the risk of tumor spread or recurrence.
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Cancer cells can be targeted and destroyed using external beam radiation therapy or brachytherapy (internal radiation).
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Freezing (cryotherapy) or laser therapy can be used to destroy small tumors or seal blood vessels supplying them.
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If the tumor cannot be effectively treated with other methods or if the unaffected eye faces a risk of vision loss, surgical removal of the affected eye (enucleation) may be necessary.
Prevention
Retinoblastoma can be prevented by:
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Individuals with a family history of retinoblastoma or known genetic mutations associated with the condition should consider genetic counseling to assess the risk of passing it on.
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Infants and young children can benefit from routine eye examinations, which can help detect retinoblastoma early and provide prompt treatment.
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Retinoblastoma may be prevented by minimizing exposure to environmental toxins and avoiding ionizing radiation during pregnancy.
