Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype

Bi-allelic variants in NR2E3 previously reported in association with ESCS showed evidence of rod photoreceptor function, and thus, terminally differentiated rods. The topography of the resulting pigmentary retinopathy shares features of NR2E3-ESCS and local relationships between local L/M and S-cone dysfunction suggest a mild ESCS phenotype that can escape detection in the absence of classical ffERG retina-wide findings of this syndrome.