A 24-YEAR-OLD man was referred for evaluation of an unusual fundus lesion in the right eye. The patient gave a history of poor vison of the right eye since childhood. He had undergone removal of multiple basal cell carcinomas from his face and scalp (Figure 1) and of odontogenic keratocysts from his left maxillary sinus. His 47-year-old mother had approximately 30 excisional biopsies of basal cell carcinomas from her face, trunk, and neck. A computed tomographic scan of her head showed falx and tentorium cerebelli calcifications.
De Potter P, Stanescu D, Caspers-Velu L, Hofmans A. Combined Hamartoma of the Retina and Retinal Pigment Epithelium in Gorlin Syndrome. Arch Ophthalmol. 2000;118(7):1004-1005. doi:10-1001/pubs.Ophthalmol.-ISSN-0003-9950-118-7-epe90095