What is Retinoblastoma?
Retinoblastoma is a rare form of eye cancer that primarily affects young children, typically before the age of five. It originates in the retina, the light-sensitive tissue at the back of the eye. The condition can affect one eye (unilateral) or both eyes (bilateral).
Symptoms of Retinoblastoma
Early detection of retinoblastoma is critical for successful treatment. The most common signs and symptoms are often subtle and can be noticed by parents or during a routine medical check-up. They include:
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Leukocoria (White Pupil Reflex): This is the most common symptom. When a flash photograph is taken, the pupil may appear white or have a whitish-yellow glow instead of the normal red reflex.
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Strabismus: The eyes may not look in the same direction at the same time.
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Redness and Swelling: The eye may appear red and swollen, often mistaken for an infection like pink eye.
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Poor Vision: The child may not track objects with their eyes or may have difficulty seeing.
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Eye Pain: In advanced cases, the child may experience pain in the affected eye.
Causes of Retinoblastoma
Retinoblastoma is caused by a genetic mutation in the RB1 gene, which controls cell division. This mutation allows retinal cells to multiply uncontrollably, forming a tumor.
Diagnosis of Retinoblastoma
An ophthalmologist, often with a subspecialty in pediatric oncology, can diagnose retinoblastoma during a comprehensive eye examination. The diagnosis typically involves:
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Dilated Eye Exam: The doctor will use special instruments to view the retina and check for signs of a tumor.
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Ultrasonography: In cases where the view of the retina is blocked, an ultrasound may be used to assess the back of the eye.
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Advanced Imaging: Imaging techniques such as MRI or CT scans may be used to determine the size and extent of the tumor and check for any spread beyond the eye.
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Genetic Testing: Genetic testing can be performed to identify the RB1 gene mutation, which is crucial for determining if the condition is inherited and for screening family members.
Treatment of Retinoblastoma
The primary goal of retinoblastoma treatment is to save the child's life, followed by preserving vision and saving the eye whenever possible. Treatment is highly specialized and is typically managed by a multidisciplinary team of experts.
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Treatments for Saving the Eye
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Chemotherapy: The most common initial treatment. Chemotherapy can be administered through a vein (systemic), or directly into the eye (intra-arterial).
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Focal Treatments: This includes laser photocoagulation or cryotherapy (freezing) to destroy small tumors in the retina.
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Radiation Therapy: Radiation therapy may be used to target and destroy tumors.
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Treatments for Removing the Eye
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Enucleation: In cases where the tumor is very large, the vision is already lost, or the tumor does not respond to other treatments, the eye may need to be surgically removed (enucleation). This is an effective way to ensure the cancer does not spread.
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