Primary intraretinal clear cell sarcoma presenting as an amelanotic circumpapillary tumor

To report a novel case of clear cell sarcoma presenting as an intraocular mass in a young adult female.

A 34-year-old female presented to the Retina Service as an emergency department referral for an intraocular lesion noted in the left eye. The patient endorsed progressively decreased vision in the left eye for three months duration. Fundus examination of the left eye was notable for a circumpapillary, retinal amelanotic mass with vitreous seeding. Due to concern for retinoblastoma and poor visual potential, the decision was made for primary enucleation. Initial histopathologic and immunohistochemical analyses demonstrated a primitive-appearing, epithelioid to spindled, intraretinal malignancy, with expression of all melanocytic markers by immunohistochemistry. Molecular genetic testing detected an EWSR1::ATF1 fusion. The patient was diagnosed with clear cell sarcoma of the eye and systemic work up revealed no additional disease burden.

Clear cell sarcoma is a soft tissue sarcoma that can present within the eye and should be included in the differential diagnosis of amelanotic intraocular (intraretinal) tumors, including those in adults with clinical appearances similar to retinoblastoma.