Consequently, it was suggested that PAX6 whole-gene direct sequencing combined with and molecular methods of detecting copy number alterations (CNV) such as high-resolution comparative hybridization (HR-CGH) arrays, fluorescence in situ hybridization (FISH), and multiplex ligation-dependent probe amplification (MLPA) was important to improve detection rate for aniridia associated with PAX6 variations, which could be more suitable for using in the aniridia cases of iris diseases panel screening negative [23]. The gene discussed is PAX6; the disease is aniridia.