Intraocular Medulloepithelioma: A Rare but Important Mimicker of Retinoblastoma
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Authors
Machairoudia,Genovefa
Venkataraman,Anusha
Löbel,Ulrike
Gaur,Pritika
Bryant,Victoria
Cottom,Hannah
Duncan,Catriona
Chowdhury,Tanzina
Sagoo,Mandeep S.
Reddy,M. A.
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2025
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Abstract
INTRODUCTION: Medulloepithelioma is a rare tumour arising from the primitive medullary epithelium affecting predominantly children. CASE PRESENTATIONS: We present 2 patients with ocular medulloepithelioma presenting in the first 2 years of life with strabismus, leukocoria and a large ocular mass occupying the globe. The clinical presentation and imaging initially raised suspicion for retinoblastoma and enucleation was performed. Histopathology confirmed the diagnosis of teratoid medulloepithelioma in both cases and genetic testing found a germline DICER1 mutation in one of them. CONCLUSION: These cases highlight the importance of considering medulloepithelioma in the differential diagnosis of intraocular tumours and underscore the value of genetic evaluation for underlying DICER1 mutations.
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Ocular oncology and pathology