Clinical and Genetic Spectrum of -Linked Dominant Optic Atrophy

Can genotype-phenotype correlations be defined in a cohort of patients with aconitase 2 ()–linked dominant optic atrophy?In a case series of 55 individuals characterized by a high clinical variability ranging from pauci-symptomatic to patients with legal blindness, with 4 of them displaying previously unpresented retinal abnormalities, no correlation was identified between the severity of visual acuity loss and variant types.Results of this study show that heterozygous variants were associated with a clinical spectrum of optic nerve and possible retinal dysfunction, whose severity remains to be elucidated by the identification of secondary parameters.

Corresponding Author: Guy Lenaers, PhD, MitoLab team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Bâtiment IRIS1 CHU d’Angers, Angers 49933, France (guy.lenaers@univ-angers.fr).

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