Loss of functional <scp>OPA</scp> 1 unbalances redox state: implications in dominant optic atrophy pathogenesis

Abstract

Our study suggests that the pro-oxidative state induced by OPA1 loss may contribute to DOA pathogenesis and that differences in antioxidant defenses can explain the variability in expressivity. Furthermore, antioxidants may be used as therapy as they could prevent or delay DOA symptoms in patients.