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Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.
Beaulieu Cléis, Bouzidi Aymane, Desquiret-Dumas Valérie, Dieu Xavier, Makam Rahul, Jurkute Neringa et al.
JAMA OphthalmolApr 20260 citationsCase Series
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.