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Congenital retinoblastoma: a case report
Insights
This case study highlights an extremely rare instance of advanced unilateral nonfamilial retinoblastoma diagnosed at birth. Aggressive treatment failed, resulting in metastatic retinoblastoma and death in an infant.
Area of Science:
- Ophthalmology
- Pediatric Oncology
Background:
- Retinoblastoma is typically diagnosed in children under three years old.
- Congenital retinoblastoma is rare, usually associated with a family history.
- Advanced presentation at birth with a perforated globe is exceptionally uncommon.
Abstract:
Retinoblastoma is usually diagnosed during the first three years of life, with an average age of diagnosis of 18 months. It is almost never found at birth except when there is a positive family history which prompts an early fundus examination. We report a case of unilateral nonfamilial retinoblastoma which was so advanced at birth that it had already produced a perforated globe. Despite enucleation, radiation, and chemotherapy, massive orbital recurrence developed which necessitated a modified orbital exenteration. In spite of this aggressive therapy the child died of metastatic retinoblastoma at age eight months.