Mutations in the AFG3L2 and SPG7 genes cause isolated dominant optic atrophy


  • Mutations in the SPG7 and AFG3L2 genes should be considered when screening for dominant optic atrophy (DOA).

Why this matters

    DOA is the most frequently inherited optic neuropathy. It is characterized by a permanent loss of retinal ganglion cells and optic nerve degeneration which eventually leads to central vision loss. The results of this study show how dysfunction of the mitochondrial matricial AAA (m-AAA) protease in the regulation of mitochondrial dynamics can result in optic neuropathy.