Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and < em > KRAS < /em > mutation: a current review and novel case report

DISCUSSION: SFMS, a rare neurocutaneous disorder, results from postzygotic mosaic mutations in the RAS/MAPK pathway. Patients present with various systemic findings and ophthalmic manifestations occur in most cases. This is the first case description of a KRAS mutation identified in an orbital choristoma in SFMS. The disease is described under various names in the literature, and we propose that all syndromic cases with mosaic RAS mutations be reported under the eponym, SFMS.PMID:38097938 | DOI:10.1080/13816810.2023.2291664
Source: Ophthalmic Genetics - Category: Opthalmology Authors: Source Type: research