KIF1A mutations have been found in PEHO syndrome in which histological studies show a marked reduction in nerve fibers of the optic nerve and death of RGC layers (Somer et al., 1993; Esmaeeli-Nieh et al., 2015; Lee J.R. et al., 2015; Ohba et al., 2015; Samanta and Gokden, 2019). The gene discussed is KIF1A; the disease is PEHO syndrome.