Retinoblastoma Cancer from Diagnosis to Treatment
What Is Retinoblastoma?
Retinoblastoma is a rare eye cancer that develops in the retina, the light-sensitive tissue at the back of the eye.
It mostly affects young children, usually before age 5, and can occur in one eye | unilateral or both eyes | bilateral.
Retinoblastoma is highly treatable, especially when detected early.
Retinoblastoma is a rare eye cancer that develops in the retina, the light-sensitive tissue at the back of the eye.
It mostly affects young children, usually before age 5, and can occur in one eye | unilateral or both eyes | bilateral.
Retinoblastoma is highly treatable, especially when detected early.
Types of Retinoblastoma
Hereditary
Caused by a mutation in the RB1 gene
Usually affects both eyes
Often diagnosed at younger ages | <1 year
Can cause multiple tumors in each eye
Higher risk of other cancers later in life
Non-Hereditary | Sporadic
No family history
Usually affects one eye | unilateral
Diagnosed slightly later | 1-3 years old
Hereditary
Caused by a mutation in the RB1 gene
Usually affects both eyes
Often diagnosed at younger ages | <1 year
Can cause multiple tumors in each eye
Higher risk of other cancers later in life
Non-Hereditary | Sporadic
No family history
Usually affects one eye | unilateral
Diagnosed slightly later | 1-3 years old
1. Signs and Symptoms
• White reflection in the pupil | called leukocoria
Appears as a white glow in photos taken with flash
• Eye redness
• Swelling around the eye
• Strabismus | crossed eyes
• Vision problems or poor tracking
• Eye wandering or shaking | nystagmus
• Pain in later stages
• White reflection in the pupil | called leukocoria
Appears as a white glow in photos taken with flash
• Eye redness
• Swelling around the eye
• Strabismus | crossed eyes
• Vision problems or poor tracking
• Eye wandering or shaking | nystagmus
• Pain in later stages
2. Causes and Risk Factors
• Family history of retinoblastoma
• Inherited RB1 mutation
• Siblings of an affected child have higher risk
• No lifestyle or environmental causes are known
• Family history of retinoblastoma
• Inherited RB1 mutation
• Siblings of an affected child have higher risk
• No lifestyle or environmental causes are known
3. Diagnostic Procedure
Medical History & Physical Exam
Detailed eye exam by a pediatric ophthalmologist
Often requires eye examination under anesthesia for young children
Imaging
Ultrasound:
Detects tumor inside the retina
MRI of the brain and orbits:
Determines size of tumor
Checks for optic nerve involvement
Identifies spread to brain or nearby tissues
CT scans are rarely used to avoid radiation exposure in young children.
Genetic Testing
Identifies RB1 gene mutation
Determines if cancer is hereditary or non-hereditary
Important for siblings & future pregnancies
Staging
Intraocular | within the eye:
Group A to E based on tumor size and location
Extraocular | outside the eye:
Spread to optic nerve
Spread to brain, bone marrow, or other organs
Medical History & Physical Exam
Detailed eye exam by a pediatric ophthalmologist
Often requires eye examination under anesthesia for young children
Imaging
Ultrasound:
Detects tumor inside the retina
MRI of the brain and orbits:
Determines size of tumor
Checks for optic nerve involvement
Identifies spread to brain or nearby tissues
CT scans are rarely used to avoid radiation exposure in young children.
Genetic Testing
Identifies RB1 gene mutation
Determines if cancer is hereditary or non-hereditary
Important for siblings & future pregnancies
Staging
Intraocular | within the eye:
Group A to E based on tumor size and location
Extraocular | outside the eye:
Spread to optic nerve
Spread to brain, bone marrow, or other organs
4. Treatment Options
➛ Systemic Chemotherapy
Used to shrink tumors | chemoreduction.
Common drugs:
Carboplatin
Vincristine
Etoposide
After shrinking, smaller tumors can be treated with local therapies.
➛ Local Chemotherapy
Intra-arterial Chemotherapy
Drug delivered directly into the ophthalmic artery
Very effective for medium-sized tumors
Intravitreal Chemotherapy
Drug injected into the eye for vitreous seeds
➛ Laser Therapy | Photocoagulation
Burns and destroys small tumors
Often used after chemo to treat residual disease
➛ Cryotherapy
Freezes and destroys small tumors near the outer retina
➛ Radiation Therapy
Used when chemotherapy and local therapies are not enough.
External beam radiation:
Rare today due to side effects
Plaque brachytherapy:
Radiation seeds placed on the eye surface
➛ Surgery | Enucleation
Removal of the affected eye
Done when vision cannot be saved or tumor is large
Prevents cancer spread
Prosthetic eye is placed afterward
➛ Systemic Chemotherapy
Used to shrink tumors | chemoreduction.
Common drugs:
Carboplatin
Vincristine
Etoposide
After shrinking, smaller tumors can be treated with local therapies.
➛ Local Chemotherapy
Intra-arterial Chemotherapy
Drug delivered directly into the ophthalmic artery
Very effective for medium-sized tumors
Intravitreal Chemotherapy
Drug injected into the eye for vitreous seeds
➛ Laser Therapy | Photocoagulation
Burns and destroys small tumors
Often used after chemo to treat residual disease
➛ Cryotherapy
Freezes and destroys small tumors near the outer retina
➛ Radiation Therapy
Used when chemotherapy and local therapies are not enough.
External beam radiation:
Rare today due to side effects
Plaque brachytherapy:
Radiation seeds placed on the eye surface
➛ Surgery | Enucleation
Removal of the affected eye
Done when vision cannot be saved or tumor is large
Prevents cancer spread
Prosthetic eye is placed afterward
5. Preferred Nutrition for Patients
Protein-rich foods:
eggs, fish, chicken, yogurt
Fruits & vegetables:
carrots, spinach, berries
Whole grains:
oats, brown rice
Healthy fats:
avocado, nuts, olive oil
Hydration:
water, soups, herbal drinks
Small, soft, frequent meals
to reduce discomfort.
Protein-rich foods:
eggs, fish, chicken, yogurt
Fruits & vegetables:
carrots, spinach, berries
Whole grains:
oats, brown rice
Healthy fats:
avocado, nuts, olive oil
Hydration:
water, soups, herbal drinks
Small, soft, frequent meals
to reduce discomfort.
6. Follow-Up and Monitoring
➛ Regular eye exams
➛ MRI scans | for hereditary cases
➛ Checking for tumor recurrence
➛ Screening for secondary cancers
➛ Vision development assessment
➛ Regular eye exams
➛ MRI scans | for hereditary cases
➛ Checking for tumor recurrence
➛ Screening for secondary cancers
➛ Vision development assessment
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