Presumed Bilateral Ciliary Body Medulloepithelioma in a Child with Pleuropulmonary Blastoma and DICER1 Mutation

<b>Background and clinical significance</b>: Ciliary body medulloepithelioma (CBME) is a rare germinal tumor deriving from nonpigmented ciliary epithelium, usually occurring during the first decade of life. Typically, the diagnosis is delayed as a result of the tumor's slow growth and late onset of symptoms. Primary enucleation is commonly required; nevertheless, globe-sparing means of therapy have been successful in selected cases. CBME is among the spectrum of neoplasms associated with <i>DICER1</i> cancer predisposition syndrome. <b>Case presentation</b>: Herein, we report a case of a 6-year-old boy with a history of pleuropulmonary blastoma type II and <i>DICER1</i> mutation who presented with leukocoria in his right eye. After a thorough ophthalmological evaluation, he was diagnosed with CBME. Because of the large size of the lesion and vitreous seeding, the eye was enucleated. Histopathology confirmed the diagnosis of a benign teratoid medulloepithelioma. After 2 years of regular ophthalmological examinations, a new lesion was detected in the left eye. Three cycles of transscleral cryotherapy allowed for tumor control and globe salvage. The patient remains recurrence-free 6 months after the last treatment. <b>Conclusions</b>: This report should raise awareness among clinicians about the possibility of bilateral CBME and the necessity of regular ophthalmological screening in patients with <i>DICER1</i> syndrome, especially those previously treated for CBME.