Due to the small number of reported cases of children diagnosed with the VPS11(C846G) mutation, it is currently unclear whether affected individuals also develop retinal degeneration; however, Zhang et al., 20166 reported that the loss of vision in their cohort of 5 patients was likely due to cortical blindness/optic atrophy, and not retinal degeneration. The gene discussed is VPS11; the disease is hereditary optic atrophy.