Clinical and Genetic Spectrum of ACO2 -Linked Dominant Optic Atrophy

Key Points

This research aims to explore the clinical and genetic diversity associated with ACO2-related dominant optic atrophy.
Conducted a case series of patients with ACO2-related DOA
Analyzed clinical presentations and retinal abnormalities
Investigated for large genomic rearrangements in patients lacking molecular diagnosis
Observed high clinical heterogeneity among ACO2-related DOA patients
Some patients exhibited retinal abnormalities
Identified an entire exon deletion in ACO2, highlighting the need for further genetic evaluations

Case series reveals clinical variability in ACO2-related optic atrophy, suggesting more genomic investigations are needed.

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Beaulieu et al. (2026) studied this question.

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