- January 19, 2025
- By drzaarofficial1@gmail.com
- 7
Understanding Retinoblastoma
What is Retinoblastoma?
Retinoblastoma is a rare type of eye cancer that develops in the retina, the light-sensitive tissue lining the back of the eye. It primarily affects young children, usually under the age of five, and can occur in one or both eyes. Retinoblastoma arises due to mutations in the RB1 gene, which normally helps control cell growth. Early detection and treatment are crucial to preserve vision and prevent the spread of the cancer to other parts of the body.
Symptoms of Retinoblastoma
The symptoms of retinoblastoma vary depending on its stage and severity. Common signs include:
Eye-related symptoms:
- A white or yellow glow in the pupil, often noticeable in photos taken with a flash (leukocoria).
- Misaligned or crossed eyes (strabismus).
- Redness or swelling in the eye.
- Poor vision or loss of vision in the affected eye.
Other possible symptoms:
- Pain or irritation in the eye.
- Bulging of the eye (in advanced cases).
Consult with Dr. Zaar
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FAQs
1. What causes Retinoblastoma?
Retinoblastoma is caused by mutations in the RB1 gene. These mutations may be:
- Hereditary (germline): Passed down from a parent, often affecting both eyes.
- Non-hereditary (somatic): Occurring randomly, typically affecting only one eye.
2. How is Retinoblastoma diagnosed?
- Eye examination: A specialist examines the retina for tumors using ophthalmoscopy.
- Imaging tests:
- Ultrasound, MRI, or CT scans to evaluate tumor size and spread.
- Genetic testing: To identify RB1 mutations and determine if the condition is hereditary.
- Bone marrow or spinal fluid tests: To check for metastasis in advanced cases.
3. How is Retinoblastoma treated?
Treatment depends on the size, location, and extent of the tumor:
- Focal therapies:
- Laser photocoagulation: Destroys blood vessels feeding the tumor.
- Cryotherapy: Freezes and destroys small tumors.
- Chemotherapy:
- Used to shrink the tumor before focal treatments or to treat more extensive disease.
- Radiation therapy:
- External beam or plaque brachytherapy for tumors not responding to other treatments.
- Surgery:
- Enucleation (removal of the affected eye) may be necessary for large tumors to prevent spread.
4. Is Retinoblastoma hereditary?
Yes, about 40% of cases are hereditary. Children with hereditary retinoblastoma have a higher risk of developing tumors in both eyes and other cancers later in life. Genetic counseling is recommended for families with a history of the disease.
5. Can Retinoblastoma spread to other parts of the body?
Yes, if untreated, retinoblastoma can spread to nearby tissues, the brain, and other parts of the body, such as the bones or bone marrow.
6. What are the survival rates for Retinoblastoma?
When diagnosed early, retinoblastoma has an excellent prognosis, with a survival rate of over 95% in developed countries. Outcomes depend on early detection and timely treatment.
7. How can Retinoblastoma be detected early?
Regular eye exams, especially for children with a family history of retinoblastoma, can help detect the disease early. Watch for signs like leukocoria or misaligned eyes.
8. Can Retinoblastoma be prevented?
While the genetic mutation itself cannot be prevented, genetic counseling and early screening for at-risk families can help detect the disease before symptoms appear.
9. Are there long-term effects of Retinoblastoma treatment?
Survivors of retinoblastoma may experience:
- Vision loss in the affected eye(s).
- Increased risk of secondary cancers in hereditary cases.
- Cosmetic changes if enucleation is performed.
10. When should I see a doctor for Retinoblastoma?
Consult a doctor immediately if you notice:
- A white or yellow glow in your child’s pupil.
- Crossed or misaligned eyes.
- Unexplained swelling, redness, or changes in vision.