Intraocular Medulloepithelioma: A Rare but Important Mimicker of Retinoblastoma
Year: 2025
Type: article
Study design: Case Report
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.
Source: Ocular Oncology and Pathology
DOI: 10.1159/000549750
Authors: Genovefa Machairoudia, Anusha Venkataraman, Ulrike Löbel, Pritika Gaur, Victoria Bryant, Hannah Cottom, Catriona Duncan, Tanzina Chowdhury, Mandeep S. Sagoo, M. Ashwin Reddy, Guy S. Negretti
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7108231636