Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?

Naig Gueguen,Julie Piarroux,Emmanuelle Sarzi,Mehdi Benkirane,Gael Manes,Cécile Delettre,Pascal Amedro,Nicolas Leboucq,Michel Koenig,Pierre Meyer,Isabelle Meunier,Pascal Reynier,Guy Lenaers,Agathe Roubertie

Mitochondrion（2021）

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摘要

•We enlarge the phenotypic spectrum of ACAD9 pathgenic variants to optic neuropathy.•Riboflavin treatment improved long-distance visual acuity.•Riboflavin treatment demonstrated significant rescue of CI activity in vitro.•We propose to screen ACAD9 gene in patients with optic neuropathy.•We propose to consider riboflavin administration in inherited optic neuropathy.

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关键词

Optic neuropathy,ACAD9,Complex I,Riboflavin

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