Related Experiment Video
Updated: Jun 13, 2025
Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
[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.
Insights
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.
Abstract:
The patient is a 2-year-old male. The family consulted the Department of Ophthalmology, Shanghai Ninth People's Hospital, after noticing a white reflection in the pupil area of the child's right eye for 6 days. Following a thorough ocular and systemic examination, the patient was diagnosed with retinoblastoma (Group E, cT2bN0M0) of the right eye. The right eye was enucleated and classified as pathological stage pT3cN0M0. Postoperatively, systemic intravenous chemotherapy with the VEC regimen was administered. Genetic testing revealed a germline mutation in the RB1 gene: c.874 (exon9) delT (p.Tyr292fsTer9), necessitating close monitoring of the socket during follow-up visits. Three months after the operation, fundus examination revealed yellow-white lesions in the left eye, and bilateral retinoblastoma was diagnosed (Group E in the right eye, Group C in the left eye). Based on the ICRB and pTNM stages, the patient underwent six rounds of systemic intravenous chemotherapy and three rounds of cryotherapy in the left eye. No recurrence was detected with a 4-year follow-up. The patient was initially diagnosed with unilateral retinoblastoma, but later developed the disease in the contralateral eye during treatment, which was a case of metachronous bilateral retinoblastoma.
