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Intraocular Ependymoma in a Child - Case report
Yehonatan Weinberger1,2, Jonathan Weidenfeld2,3, Ido Didi Fabian2,4
1Ophthalmology department, Rabin Medical Center, Petah-Tikva, Israel.
Retinal Cases & Brief Reports
|April 7, 2026
Summary
This case report details a rare childhood intraocular ependymoma, initially misdiagnosed as medulloepithelioma. Diagnosis was confirmed via histology and molecular studies after treatment failure and enucleation.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Neuropathology
Background:
- Intraocular tumors in children are rare and often challenging to diagnose.
- Ciliary body medulloepithelioma is a common intraocular tumor in childhood.
- Accurate diagnosis is crucial for appropriate management and prognosis.
Purpose of the Study:
- To report an extremely rare case of intraocular ependymoma in a child.
- To highlight diagnostic challenges and the importance of comprehensive pathological analysis.
- To emphasize the need to consider intraocular ependymoma in the differential diagnosis of pediatric intraocular tumors.
Main Methods:
- Case report detailing clinical presentation, treatment course, and enucleation.
- Histopathological examination including immunohistochemistry (GFAP, S100, EMA, L1CAM, Olig2).
- Molecular genetic studies to identify specific fusion sequences (C11orf95-RELA).
Main Results:
- A 5-year-old boy was initially diagnosed with ciliary body medulloepithelioma.
- Treatment with plaque brachytherapy failed, leading to neovascular glaucoma and enucleation.
- Histology revealed atypical cells in pseudorosettes, and immunohistochemistry/molecular studies confirmed intraocular ependymoma.
Conclusions:
- Intraocular ependymoma is an exceptionally rare diagnosis in pediatric ophthalmology.
- Comprehensive histopathological and molecular analysis is essential for definitive diagnosis.
- Intraocular ependymoma should be considered in the differential diagnosis of pediatric retinal and ciliary body tumors.
