Nuevo signo OCT en retinosquisis ligada al X sin esquisis macular: «fovea en tejado invertido»

Abstract

We present the case of a 52-year-old man with a stable ophthalmological follow-up for the last 10 years. Clinically asymptomatic, except for floaters in both eyes. In the fundus, bilateral peripheral retinoschisis was observed without associated macular schisis. The electroretinogram (ERG) is electronegative and shows a genetic confirmation of the pathogenic variant c.461A >G; p.(Gln154Arg) of the RS1 gene compatible with the diagnosis of juvenile X-linked retinoschisis (RSLX). The foveal architecture in Optical Coherence Tomography (OCT) presents «inverted roof fovea» not previously described, having found two similar cases in the literature. In males in whom we find the sign of «inverted roof fovea», we should check the fundus, and if we find peripheral retinoschisis, we recommend insisting on the family history, and increase its study with an ERG and molecular genetic analysis, ruling out RSLX.