Her mother (III.2) underwent genetic testing using an optic atrophy gene panel, which revealed a heterozygous sequence variant in the OPA1 gene, c.1065+5G>A in intron 10 (NM_015560.2), initially classified as a variant of uncertain significance (VUS; VUS class 3 of the American College of Medical Genetics and Genomics classification).30 This evidence concerns the gene OPA1 and optic atrophy.