All 38 different mutations that are discovered until now in the SLC38A8 gene resulted in similar phenotypes, comprising poor VA, nystagmus, severe foveal hypoplasia (grade 4 in our study, and grade 3 or 4 in previously reported patients), definite chiasmal misrouting, and no signs of any pigmentation defect (skin, hair, iris, or fundus). This evidence concerns the gene SLC38A8 and pathologic nystagmus.