The Significance of Glaucoma Screening in Children Diagnosed with Singleton-Merten Syndrome

Abstract

Singleton-Merten Syndrome (SMS) is a rare genetic disorder that is inherited in an autosomal dominant manner and is characterized by the presence of glaucoma, psoriasis, and abnormalities in dental, skeletal, and cardiac structures, as reported in the scientific literature [1-7]. This is attributed to mutations in DDX58 and IFIH1, which produce proteins that are part of the RIG-I- like receptor family and play a role in the type I interferon pathway [1-4]. In this case report, we provide a detailed clinical course of glaucoma in an individual who was found to have a pathogenic variant of the IFIH1 gene, along with symptoms of SMS.