Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3L2 gene

Background: Autosomal Dominant Optic Atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability. Although a number of mutations in different genes are now known to cause DOA, many cases remain undiagnosed. Methods: In attempt to identify the underlying genetic defect, whole exome sequencing was performed in a 19 years old male affected by isolated DOA since childhood. Results: Exome sequencing revealed a pathogenic mutation (p.R468C, c.1402C>T) in the AFG3L2 gene, a gene known to be associated with spinocerebellar ataxia. Our patient does not show any signs other than DOA. Conclusions: Our result raises the possibility that mutations in the AFG3L2 gene may be a cause of isolated autosomal dominant optic atrophy.