Retinoblastoma is a rare and aggressive type of eye cancer that primarily affects young children, usually under the age of five. It originates in the retina, the light-sensitive tissue at the back of the eye, and develops when retinal cells undergo genetic mutations, leading to uncontrolled growth.
Retinoblastoma can occur in one or both eyes and may be hereditary or non-hereditary. If diagnosed early, the prognosis is generally favorable, but if left untreated, it can spread to other parts of the body, including the brain and bones.
Rare but aggressive – Mostly affects young children, accounting for about 3% of all childhood cancers.
Hereditary and non-hereditary forms – Can be inherited from parents or occur due to spontaneous mutations.
Early detection is crucial – Symptoms may not be noticeable in early stages, making regular eye check-ups vital.
Survival rate is high with early treatment – More than 95% of cases are curable if diagnosed in time.
The exact cause of retinoblastoma is linked to genetic mutations in the RB1 gene, a tumor suppressor gene. Mutations in this gene prevent normal regulation of cell growth, leading to cancer.
Genetic predisposition – Children with a family history of retinoblastoma are at higher risk.
Hereditary retinoblastoma – A child inherits the RB1 mutation from a parent.
Non-hereditary mutations – Spontaneous mutations can cause cancer without a family history.
Age factor – Most commonly diagnosed in children under five years old.
Parental age – Some studies suggest that older parental age may slightly increase risk.
Retinoblastoma symptoms can be subtle, especially in early stages. Parents should be vigilant and consult an eye specialist if any abnormalities are noticed.
Leukocoria – A white glow in the pupil when light shines on it (often seen in flash photography).
Strabismus (crossed eyes) – Misalignment of the eyes due to tumor growth.
Poor vision – Reduced vision or sudden visual impairment in one or both eyes.
Redness and swelling – Inflammation or irritation in the eye.
Enlarged eyeball – Advanced cases may cause the eye to bulge.
Pain – Discomfort or pressure inside the eye.
Retinoblastoma is classified based on its genetic pattern and spread.
Affects both eyes.
Passed down through families.
More likely to develop secondary cancers later in life.
Affects only one eye.
No family history; occurs due to spontaneous mutation.
Less risk of secondary cancers.
Rare condition where a tumor also forms in the brain (pineal gland).
Mostly seen in hereditary cases.
Early diagnosis of retinoblastoma is essential for effective treatment and preserving vision. Various diagnostic tests help detect the disease at an early stage.
Dilated eye exam – An ophthalmologist examines the retina for tumors.
Ultrasound of the eye – High-frequency sound waves create images of the tumor.
MRI or CT scan – Detailed imaging to check for tumor spread.
Fluorescein angiography – Dye-injected imaging to assess blood vessels in the retina.
Genetic testing – Determines hereditary risk and future family planning.
The treatment approach depends on the stage, location, and severity of the tumor. The goal is to eliminate cancer while preserving vision as much as possible.
Used to shrink tumors before other treatments.
Administered through oral, intravenous, or intra-arterial methods.
Destroys small tumors using laser beams.
Effective in early-stage retinoblastoma.
Uses extreme cold to freeze and destroy cancer cells.
Applied for small tumors.
External beam radiation targets tumors.
Plaque radiotherapy places a radioactive disc near the tumor.
Used when vision cannot be saved.
The affected eye is removed to prevent the spread of cancer.
Used in advanced cases where aggressive chemotherapy damages bone marrow.
Survival rates for retinoblastoma are high, particularly in developed countries with advanced medical care.
Early-stage (localized) – Over 95% survival rate if treated promptly.
Advanced-stage (spread beyond the eye) – Survival rate drops if cancer spreads to the brain or bones.
Early diagnosis – The sooner it is detected, the better the outcome.
Tumor size and location – Small, localized tumors have a better prognosis.
Response to treatment – How well the tumor shrinks with chemotherapy or other therapies.
Metastasis – If cancer spreads beyond the eye, survival chances decrease.
Since most cases of retinoblastoma result from genetic mutations, complete prevention is not always possible. However, some measures can reduce risks.
Genetic testing for high-risk families.
Regular pediatric eye screenings, especially for children with a family history.
Prompt medical attention for any eye abnormalities.
Managing life after retinoblastoma treatment involves medical follow-ups, rehabilitation, and emotional support.
Regular eye exams – Essential for monitoring recurrence or secondary cancers.
Prosthetic eye – If an eye is removed, prosthetic replacements improve appearance and function.
Psychological support – Counseling and support groups help families cope.
Visual rehabilitation – Helps children adapt if vision is affected.
Genetic counseling – Important for parents considering future pregnancies.
Empowering individuals with knowledge, promoting early detection, and supporting cancer prevention to reduce risks, enhance treatment outcomes, and create a healthier, cancer-free future for all.
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