Gorlin Syndrome Associated With a Solitary Circumscribed Retinal Astrocytic Proliferation in a Pediatric Patient

Gorlin syndrome is a rare autosomal dom-inant disorder with near complete penetrance. The underlying genetic mechanism is a mutation in a tu-mor suppressor gene. Thus far, mutations in patched homolog 1 and 2 genes (PTCH1 and PTCH2) and the suppressor of fused gene (SUFU) have been identi-fied. The syndrome is characterized by neoplasms arising early in childhood as well as developmental abnormalities, including ophthalmic anomalies. We present the first case associating Gorlin syndrome with a rare retinal lesion known as solitary circum-scribed retinal astrocytic proliferation (SCRAP). SCRAP is a benign, stable retinal tumor. For this rea-son, it is essential to differentiate it from similar reti-nal lesions that are associated with poor prognosis.