Retinoblastoma is a rare type of eye cancer that primarily affects young children, usually under the age of 5. It originates in the retina, the light-sensitive layer of tissue at the back of the eye. Retinoblastoma can occur in one or both eyes and, if untreated, may spread to other parts of the body.
Retinoblastoma develops when genetic mutations cause retinal cells to grow uncontrollably, forming tumors. The condition may be inherited (genetic) or sporadic (non-genetic). Early detection is crucial for effective treatment and preserving vision.
Affects young children, typically before age 5.
Originates in the retina, leading to vision problems.
Can be inherited or occur spontaneously.
Early diagnosis improves outcomes.
Retinoblastoma is primarily caused by mutations in the RB1 gene, which controls cell growth in the retina. These mutations may be inherited from a parent or occur randomly.
Genetic predisposition – A family history of retinoblastoma increases risk.
Mutations in the RB1 gene – Leads to uncontrolled cell division.
No known environmental causes – Unlike other cancers, lifestyle factors do not contribute to its development.
Early symptoms may not be obvious, but parents and doctors should watch for:
White glow in the pupil (leukocoria) – Especially noticeable in flash photographs.
Crossed or misaligned eyes (strabismus) – May indicate vision impairment.
Poor vision – Difficulty focusing or tracking objects.
Eye redness or swelling – Unexplained inflammation or irritation.
Enlarged pupil or different eye color – May signal abnormal eye development.
Affects one eye.
More common in sporadic cases.
Affects both eyes.
Often associated with inherited genetic mutations.
Rare form involving both eyes and a tumor in the pineal gland (brain).
Occurs in some hereditary cases.
Early detection is key to successful treatment. Diagnostic tests include:
Eye examination – Specialized tests using dilation and fundoscopy.
Ultrasound of the eye – Identifies tumor size and location.
MRI or CT scan – Detects spread beyond the eye.
Genetic testing – Determines if the mutation is hereditary.
Fluorescein angiography – Examines blood flow in the retina.
Treatment depends on tumor size, location, and spread.
Shrinks tumors before other treatments.
Given as intravenous, intra-arterial, or intraocular injections.
Destroys small tumors using laser heat.
Prevents tumor blood supply.
Freezes cancer cells with liquid nitrogen.
Effective for small tumors near the retina’s edge.
External beam radiation for larger tumors.
Brachytherapy (Plaque Therapy) uses radioactive implants near the tumor.
Removes the affected eye in severe cases.
Prevents the spread of cancer if the tumor is too large.
Under research for advanced or recurrent cases.
May involve gene-targeting drugs.
With early diagnosis and treatment, retinoblastoma has an excellent prognosis.
Localized retinoblastoma – Over 95% survival rate.
Advanced/metastatic retinoblastoma – Lower survival but improving with new treatments.
Stage at diagnosis – Earlier detection improves outcomes.
Type (unilateral vs. bilateral) – Bilateral cases may require ongoing monitoring.
Treatment response – Tumor size and location affect treatment success.
While retinoblastoma cannot always be prevented, risk reduction is possible in hereditary cases.
Genetic counseling – For families with a history of retinoblastoma.
Regular eye exams – Essential for early detection in high-risk children.
Prenatal screening – For families with known RB1 mutations.
Coping with retinoblastoma involves medical care, emotional support, and rehabilitation.
Follow-up care – Regular eye exams and imaging to check for recurrence.
Vision therapy – Helps children adapt to vision loss.
Psychological support – Counseling for children and families.
Prosthetic eye options – Enhances cosmetic appearance after enucleation.