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[Metachronous bilateral retinoblastoma: a case report]
Reyizha Mengjiang1, J Yang1, X Y Wen1
1Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai 200011, China.
[Zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology
|September 13, 2024
Summary
This case study highlights metachronous bilateral retinoblastoma in a child initially diagnosed with unilateral disease. Early detection and comprehensive treatment, including chemotherapy and cryotherapy, are crucial for managing this rare condition.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Genetics
Background:
- Retinoblastoma is the most common primary intraocular malignancy in children.
- Germline mutations in the RB1 gene are associated with hereditary retinoblastoma and an increased risk of bilateral disease.
Observation:
- A 2-year-old male presented with leukocoria in the right eye, diagnosed as unilateral retinoblastoma (Group E).
- Genetic testing revealed an RB1 gene mutation (c.874 delT).
- Three months post-enucleation and chemotherapy, the patient developed retinoblastoma in the left eye (Group C).
Findings:
- The patient was diagnosed with metachronous bilateral retinoblastoma, a rare presentation.
- Treatment involved enucleation, systemic chemotherapy (VEC regimen), and cryotherapy.
- A 4-year follow-up showed no recurrence.
Implications:
- This case underscores the importance of vigilant monitoring for contralateral eye involvement in retinoblastoma patients, even after initial unilateral diagnosis.
- Genetic testing for RB1 mutations is vital for risk stratification and family counseling.
- Multimodal treatment strategies are essential for managing bilateral retinoblastoma effectively.
