概述
Retinoblastoma is a rare eye cancer that develops from the retina, the light-sensitive tissue at the back of the eye. It primarily affects young children, typically under the age of five, and can occur in one or both eyes.
It is often caused by a mutation in the RB1 gene, which may be inherited (hereditary) or occur spontaneously (non-hereditary). Early detection is crucial for preserving vision and life.
症状
- White reflection in the pupil (leukocoria) seen in flash photos
- Crossed eyes (strabismus)
- Poor vision or loss of vision
- Eye redness or swelling
- Eye pain (less common)
病因与风险因素
- Mutation in the RB1 tumor suppressor gene
- Hereditary retinoblastoma: often bilateral and diagnosed earlier
- Family history of retinoblastoma
- Non-hereditary cases usually affect one eye only
诊断方法
- Dilated eye exam by a pediatric ophthalmologist
- Ultrasound of the eye
- MRI or CT scan to assess tumor spread
- Genetic testing to determine hereditary risk
治疗方案
- Chemoreduction (systemic chemotherapy to shrink tumor)
- Focal therapies:
- Laser photocoagulation
- Cryotherapy
- Thermotherapy
- Intra-arterial chemotherapy
- Enucleation (removal of the eye, used for advanced cases)
- Radiation therapy (rarely used due to secondary cancer risk)
预后情况
- Highly curable when detected early
- 5-year survival rate exceeds 95% in developed countries
- Vision preservation depends on tumor size, location, and number
与此类癌症共处
- Lifelong follow-up for recurrence and secondary cancers (especially in hereditary cases)
- Genetic counseling and screening for siblings or offspring
- Visual rehabilitation and prosthetic support (if eye is removed)
- Psychological support for child and family
预防与筛查
FAQs
- No prevention for spontaneous cases
- Genetic counseling for at-risk families
- Regular screening for children with family history
相关资源
Q: Is retinoblastoma inherited?
A: In about 40% of cases. These patients may develop tumors in both eyes and have a higher risk of other cancers later in life.
Q: Can children survive retinoblastoma?
A: Yes, the survival rate is very high with timely treatment.
Q: Will a child lose vision?
A: It depends. Many children retain partial vision, and advanced cases may require eye removal.
