Ocular features of the organoid nevus syndrome

The purpose of the study was to demonstrate the ocular features of organoid nevus syndrome.

A 10-day-old male infant was referred for management of retinoblastoma as a result of the presence of intraocular calcification. The examination showed a cutaneous lesion in the midline, epibulbar vascular lesions, and a cutaneous nodule at the lateral canthus. Fundus evaluation showed circumpapillary flat discoloration, which appeared hyperdense on ultrasound.

All these features were consistent with organoid nevus syndrome. The cutaneous lesion was consistent with nevus sebaceous, the epibulbar lesion with choristoma, and the fundus lesion with cartilaginous choristoma.

The presence of intraocular calcification often leads to a mistaken diagnosis in organoid nevus syndrome. Appropriate identification is important to diagnose this multisystem disorder.