NR2E3 and neurodegenerative disease: SD-OCT has been previously described as a powerful tool to diagnose several retinal degenerative as well as neurodegenerative diseases [95,96,97,98,99], In addition to changes at the vascular arcades in humans that correspond precisely to the rosettes and whorls seen on histological sections and SD-OCT in rd7 mice, fundus features are also remarkably similar between ESCS patients and their murine counterpart.