A novel homozygous missense VUS in PEX26, c.349C>A p.(Pro117Thr) (Table 2) was found in a 12-year-old female (proband 46) with bilateral reduced vision, nyctalopia, bilateral subcapsular cataract, diffuse retinal atrophy with diffuse pigmentary changes in both eyes (Fig. 4C, D), and severely reduced amplitudes in scotopic and photopic ERG. Here, PEX26 is linked to night blindness.