Torpedo maculopathy in a patient with DeSanto-Shinawi syndrome.

Abstract

Introduction: Torpedo 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 description: This 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).

Conclusion: This 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.