Torpedo maculopathy in a patient with DeSanto-Shinawi syndrome.

Abstract

IntroductionTorpedo maculopathy (TM) is a rare, typically benign and congenital anomaly of the retinal pigment epithelium (RPE) characterized by a torpedo-shaped lesion in the macula. DeSanto-Shinawi syndrome (DESS) is an equally rare genetic disorder caused by mutations in the WAC gene, presenting with intellectual disability, dysmorphic features, and growth retardation.Case descriptionThis report illustrates the case of monolateral TM in a patient with DESS. The genetic and phenotypic characteristic were described and correlated with retinal features, assessed by means of retinography, spectral domain OCT (SD-OCT) and fluorescein angiography (FA).ConclusionThis case report discusses the unusual co-occurrence of TM in a patient diagnosed with DESS, contributing to the sparse literature on this association and expanding the phenotypic spectrum of both conditions.