Dhahran Health Center

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...