Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.
Beaulieu Cléis, Bouzidi Aymane, Desquiret-Dumas Valérie et al.
This study characterized ACO2-linked dominant optic atrophy, finding high clinical variability from mild to severe vision loss, sometimes with retinal abnormalities. No genotype-phenotype correlation was found.