Chloride voltage-gated channel 2 (CLCN2)-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by pathogenic variants in CLCN2. CC2L is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain magnetic resonance imaging (MRI) [1]. This evidence concerns the gene CLCN2 and Leber hereditary optic neuropathy.