PAX6 and achromatopsia: Foveal hypoplasia has been previously reported mainly in ocular albinism, PAX6 mutations, achromatopsia, and prematurity.30, –, 32 Recently, foveal hypoplasia has been found to be strongly associated with optic nerve hypoplasia and septo-optic dysplasia, suggesting an association between the development of the optic nerve and fovea.18 Unique foveal structures with abnormal contour of the fovea and abnormal hyperreflective interfaces between the RNFL and GCL on OCT has been noted in the present study (figure 3).