Recessive mutations in the SLC38A8 (solute carrier family 38 member 8) gene on chromosome 16q23.3 have been shown, however, to cause FVH and optic nerve misrouting independent of the pigmentation defects associated with oculocutaneous albinism or ocular albinism [4,5]. This evidence concerns the gene SLC38A8 and foveal hypoplasia.