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

Autor:	Ashley, Lopez-Cañizares, Hasenin, Al-Khersan, Piero, Carletti, Carol L, Shields, Audina M, Berrocal
Rok vydání:	2022
Předmět:	Patched-1 Receptor Mutation Humans Basal Cell Nevus Syndrome Child Cell Proliferation
Zdroj:	Ophthalmic Surgery, Lasers and Imaging Retina. 53:514-516
ISSN:	2325-8179 2325-8160
DOI:	10.3928/23258160-20220811-01
Popis:	Gorlin syndrome is a rare autosomal dominant disorder with near complete penetrance. The underlying genetic mechanism is a mutation in a tumor suppressor gene. Thus far, mutations in patched homolog 1 and 2 genes (PTCH1 and PTCH2) and the suppressor of fused gene (SUFU) have been identified. 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 circumscribed retinal astrocytic proliferation (SCRAP). SCRAP is a benign, stable retinal tumor. For this reason, it is essential to differentiate it from similar retinal lesions that are associated with poor prognosis. [ Ophthalmic Surg Lasers Imaging Retina 2022;53:514–516.]
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc1dbcea556f8989c44fe9bba9a1633 https://doi.org/10.3928/23258160-20220811-01 Zobrazit plný text záznamu