Suspected Enhanced S-Cone Syndrome: A Case Report

Abstract

Enhanced S-cone syndrome (ESCS) is a rare type of retinal dystrophy disorder that is linked to NR2E3 gene mutation and NRL gene mutations less widely. The disease is characterized by increased S-cones number and marked degeneration in rods and M- and L-cone receptors. The patient suffers from night blindness from an early age. Examination of the fundus of the eye shows nummular pigmented lesions, but they are not specific to ESCS. The diagnosis can be confirmed with electroretinography. We report a case of a four-year-old girl suspected of having ESCS based on her clinical picture, fundus examination, and electroretinography.

Keywords: case report; diagnosis; electroretinography; enhanced s-cone syndrome; retinal dystrophy.

Figure 1. Colored fundus photos of the right (a) and left (b) eyes showing bilateral multiple deep yellowish choroidal lesions (arrows). The optic nerve head and vessels are within normal limits.

Figure 2. Optical coherence tomography of the right (a) and left (b) eyes showing multiple, round, subretinal, hyperreflective accumulations. Some of these accumulations were associated with intraretinal fluids and cysts with no foveoschisis.