Retinoblastoma

🧿 Retinoblastoma Fact Sheet
Cancer Type: Eye Cancer (Intraocular)

Most Affected Group: Infants and young children (typically under 5 years old)

 

🌐 Website Reference: OcularCancer.com

 

🔍 What is Retinoblastoma?

​Retinoblastoma is a rare eye cancer that begins in the retina, the light-sensitive lining at the back of the eye. It develops when immature retinal cells grow uncontrollably, forming a malignant tumor.

 

📊 Key Facts:

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• Incidence: ~1 in 15,000 to 20,000 live births

 

• Age of Diagnosis: Most commonly diagnosed before age 2; 90% of cases occur before age 5

 

• Unilateral vs. Bilateral:

 

• Unilateral (one eye): ~60% of cases

 

• Bilateral (both eyes): ~40% (often hereditary)

 

• Hereditary Cases: ~40% are linked to a mutation in the RB1 gene

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🧬 Genetic Information:

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• Caused by mutations in the RB1 tumor suppressor gene on chromosome 13

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• Hereditary Retinoblastoma:

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• Passed from parent to child

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• Often involves both eyes (bilateral)

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• Higher risk of secondary cancers later in life

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• Non-hereditary Retinoblastoma:

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• Typically affects one eye (unilateral)

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• Caused by a spontaneous mutation

 

👁️ Signs and Symptoms:

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• Leukocoria: A white "glow" or reflection in the pupil (often seen in photos with flash)

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• Strabismus: Misaligned eyes (crossed or drifting eyes)

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• Eye redness or swelling

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• Poor vision or vision loss

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• Enlarged pupil or iris color changes

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• Eye pain in some advanced cases

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🩺 Diagnosis:

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• Dilated eye exam by a pediatric ophthalmologist

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• Imaging tests: Ultrasound, MRI, or CT scan of the eye

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• Genetic testing for RB1 mutations

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• Examination under anesthesia (EUA): Often used to assess tumor size and location

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⚙️ Staging:

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• Intraocular: Tumor confined within the eye

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• Extraocular: Tumor has spread beyond the eye (optic nerve, brain, or other organs)

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• International Classification (Groups A–E): Helps determine treatment plans and prognosis

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🧪 Treatment Options:

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• Enucleation: Surgical removal of the eye (used in advanced or non-salvageable cases)

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• Chemotherapy: Systemic or localized (e.g., intra-arterial or intravitreal)

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• Laser therapy (Photocoagulation)

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• Cryotherapy: Freezing the tumor

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• Radiation therapy: Plaque brachytherapy or external beam (used less often today)

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• Focal therapies: Used to preserve vision in small tumors

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🎯 Prognosis:

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• Survival Rate (U.S. & developed countries): Over 95% if caught early

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• Vision Preservation: Dependent on tumor location and size

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• Follow-up Care: Regular monitoring for recurrence or secondary cancers in hereditary cases

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❤️ Support & Resources:

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• Genetic counseling for families

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• Support groups for parents and survivors

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• Early screening recommended for siblings or children of survivors

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• Prosthetic eye services after enucleation

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📌 Key Takeaways:

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• Early detection and treatment lead to excellent survival outcomes.

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• Leukocoria is often the first visible sign—check flash photos for white reflections.

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• Hereditary cases require lifelong monitoring.

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• Advances in treatment now focus on saving both life and vision.

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For more information and support, visit:

🌐 OcularCancer.com – Your trusted resource for rare eye cancers, survivor stories, and expert-guided care.

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