Wills Eye Hospital

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Cavernous Sinus Thrombosis: Presentation, Management, and Initial Diagnostic Uncertainty

ABSTRACT Objective Cavernous sinus thrombosis (CST) is a life‐threatening diagnosis. Early CST may be difficult to detect, presenting without overt orbital findings or classic radiographic clues. The objective is to present the largest single‐institution series characterizing pre...