Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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August 8, 2024
Medulloepithelioma of the Ciliar Body
- Background:
- Medulloepithelioma is a rare intraocular embryonal tumor, but it is the second most frequent ocular tumor in children. Its most common location is in relation to the ciliary body, being less frequent in retina and optic nerve.
- Clinical Presentation:
- It is more frequent in children between 2 and 10 years of age, with an average age at presentation of 5 years.
- Three to 5% of the cases can be associated with DICER1 syndrome, a tumor suppressor gene mutation, most commonly known for pleuropulmonary blastoma.
- It may be asymptomatic or present as loss of vision, pain, leukocoria, or conjunctival congestion.
- Key Diagnostic Features:
- Mass originating from the ciliary body
- CT:
- Heterogeneous—hyperdense
- Rare calcifications
- MRI:
- T1: isointense or lightly hyperintense to vitreous
- T2: hypointense to vitreous with cystic changes in larger lesions
- T1 with gadolinium: avid enhancement
- DWI: restricted diffusion, low ADC values
- CT:
- Mass originating from the ciliary body
- Differential Diagnosis:
- Retinoblastoma
- Coats disease
- Melanoma
- Treatment:
- Treatment depends on the intraocular extent of the tumor. Small tumors can be treated with cryotherapy, radiotherapy, or local resection. Larger tumors or tumors with extraocular invasion should be treated with enucleation.
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