Among the cases of recessive optic atrophy, there was one case of short stature, optic nerve atrophy, Pelger-Huet anomaly (SOPH syndrome) caused by NBAS variants, one case of PTPN23 optic atrophy syndrome, one case of TMEM126A optic atrophy, and one case of Wolfram syndrome. The gene discussed is PTPN23; the disease is short stature-optic atrophy-Pelger-Huët anomaly syndrome.