Biallelic pathogenic variants in solute carrier family 38 member 8, SLC38A8, cause a pan-ocular autosomal recessive condition known as foveal hypoplasia 2, FVH2, characterised by foveal hypoplasia, nystagmus and optic nerve chiasmal misrouting. Here, SLC38A8 is linked to Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome.