Nishigushi et al. suggested an ESCS phenotype in two siblings who presented the typical clumped pigmentary retinal degeneration and relative preservation of blue cone function associated with compound heterozygous NRL variations: a loss-of-function (c.224_225insC, p.Ala76GlyfsTer18) and a missense variant (c.479T>C, p.Leu160Pro) [14]. This evidence concerns the gene NRL and Pigmentary retinopathy.