King Fahd Hospital of the University

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende–Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations

PURPOSE: Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive disorder caused by biallelic variants and characterized by blepharophimosis, arachnodactyly, congenital joint contractures, and a recognizable craniofacial phenotype, with normal growth and intelligence. T...

Sphenoid fungal rhinosinusitis across the disease spectrum: a case series of non-invasive fungal ball and fatal acute invasive fungal rhinosinusitis

Introduction: Sphenoid fungal rhinosinusitis is an uncommon but clinically important entity ranging from non-invasive fungal ball to rapidly fatal acute invasive fungal rhinosinusitis. Case presentation: We report two contrasting cases of sphenoid fungal disease. The first was a...