We found that ADGRG5 (Chr16:575620A:G), POLE4 (Chr2:7495872T:G), ERMAP (Chr1:4283044A:G), PIGR (Chr1:2069357C:T;2069358G:A), CDC42BPB (Chr14:102949A:G), PROK1 (Chr1:1104562A:G), BCAN (Chr 1:1566582C:T), NES (Chr1:1566698A:G,1566705T:C, 1566707T:C) may be involved in the clinical penetrance of LHON (Table 5). Here, CDC42BPB is linked to Leber hereditary optic neuropathy.