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
