Inherited dominant optic neuropathy: from clinical studies to gene function and back again

• Dominant optic atrophy is caused by mutations in the OPA1 gene.
• OPA1 encodes a dynamin-related GTPase mitochondrial fusion protein.
• Mouse models of Opa1 mutations are being used to find therapeutic intervention for patients.

Here we review how clinically driven research into the basic cellular function of the major determinant in autosomal dominant optic atrophy, Kjer's type (OPA1), has in turn, facilitated and inspired potential therapeutic endeavours in murine models. Dominant optic atrophy is one of the most frequent causes of inherited optic neuropathy and affects up to 1 in 35 000. Its underlying pathophysiology gives us a remarkable insight into mitochondrial function and how this impacts on neuronal cell survival in the retina.

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