The gene panel targets 16 genes that are associated with optic atrophy, namely OPA1, OPA3, TMEM126A, WFS1, MFN2, TIMM8A, SPG7, NR2F1, ACO2, RTN4IP1, AFG3L2, C12ORF65, SLC25A46, CISD2, DNM1L, and YME1L1. No rare and potentially disease-causing exonic variants explaining the disease phenotype were found except for a canonical splice donor site variant in TMEM126A in family A and a missense variant in the same gene in family B. Both variants segregate with the disease in the families as can be seen in the pedigrees shown in Fig. 1. The gene discussed is TMEM126A; the disease is optic atrophy.