Eur J Ophthalmol. 2025 Feb 12:11206721251313840. doi: 10.1177/11206721251313840. Online ahead of print.
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.
PMID:39936367 | DOI:10.1177/11206721251313840
