Enhanced S-Cone Syndrome (ESCS)

Enhanced S-Cone Syndrome, also known as goldmann-favre syndrome, is related to retinitis pigmentosa 37 and retinitis pigmentosa 27. An important gene associated with Enhanced S-Cone Syndrome is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. The drugs Interferon-gamma and interferons have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are cataract and nyctalopia