The sequencing results identified a de novo missense variant (c.235C > G p.[Leu79Val]) in the patient's OPA3 gene (NCBI reference sequence NM_025136.3), a gene known to cause optic atrophy and cataracts (Reynier et al. 2004; Ayrignac et al. 2012). Here, OPA3 is linked to optic atrophy.