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Late-onset retinoblastoma in a well-functioning fellow eye
Paulus T V M de Jong1, Cornelia M Mooy, Gerrit Stoter
1Netherlands Institute for Neurosciences, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands. p.dejong@ioi.knaw.nl
Ophthalmology
|April 25, 2006
Summary
Retinoblastoma can recur in the fellow eye up to 25 years after initial treatment, even with extensive interventions. This case highlights the long-term implications of retinoblastoma and its treatment, emphasizing the need for continued monitoring.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- A 27-year-old male with a germline RB1 gene mutation (g.153211T>A, p.Tyr606X) had his left eye enucleated at age 2 for retinoblastoma.
- His right eye, initially untreated, developed retinoblastoma.
- This case describes the clinical course and histopathology of retinoblastoma in the fellow eye.
Observation:
- The affected right eye underwent multiple treatments including irradiation, vitrectomy, cryocoagulation, laser photocoagulation, cataract extraction, and chemotherapy.
- Despite interventions, the eye was enucleated 12 years later due to tumor recurrence, seeding, and elevated intraocular pressure.
- Histopathology revealed retinoblastoma cells in various ocular tissues, including the anterior chamber and optic nerve head.
Findings:
- Retinoblastoma can manifest and recur in the fellow eye up to 25 years after the initial diagnosis.
- Elschnig's pearls (after-cataract) can still develop after high-dose irradiation (45 Gy) of the lens.
- The patient remained disease-free systemically and locally at age 50, 11 years post-enucleation.
Implications:
- This case underscores the importance of long-term surveillance for retinoblastoma patients, even decades after initial treatment.
- Understanding the potential for late recurrences and treatment complications like Elschnig's pearls is crucial for managing these patients.
- Genetic mutations in the RB1 gene can lead to prolonged risk and complex clinical courses in retinoblastoma survivors.