Previous to this study, there were very few reports of TYR mutations in patients with such a mild albino phenotype, presenting only foveal hypoplasia as a main clinical feature; Kubal et al., in 2009, identified compound heterozygous variants in the TYR gene in a case of foveal hypoplasia, in which the patient showed only mild ocular features without apparent skin or hair whitening, nystagmus, photophobia or severely reduced vision [29]; and Xu et al., in 2020, identified compound, heterozygous TYR variants using a WES approach in another patient with isolated foveal hypoplasia. Here, TYR is linked to pathologic nystagmus.