Gorlin Syndrome Associated With a Solitary Circumscribed Retinal Astrocytic Proliferation in a Pediatric Patient
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 syn...
| Veröffentlicht in: | Ophthalmic surgery, lasers & imaging retina. - 2013. - 53(2022), 9 vom: 15. Sept., Seite 514-516 |
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| Weitere Verfasser: | , , , |
| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2022
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| Zugriff auf das übergeordnete Werk: | Ophthalmic surgery, lasers & imaging retina |
| Schlagworte: | Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, N.I.H., Extramural Patched-1 Receptor |
| Zusammenfassung: | 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.] |
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| Beschreibung: | Date Completed 19.09.2022 Date Revised 25.10.2022 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 2325-8179 |
| DOI: | 10.3928/23258160-20220811-01 |