Fig. 1

Family clinical features and pedigree. a Fundus photos of proband age 20 showing bilateral optic nerve atrophy. b MRI Brain demonstrating numerous T2/FLAIR hyperintense lesions predominantly involving the periventricular white matter and the grey-white matter junction. c Pedigree demonstrating clear autosomal dominant inheritance of optic atrophy. The arrow indicates the proband. d AFG3L2 protein scheme with functional domains, reporting the mutation described here. e p.G337 AFG3L2 residue conservation among different AFG3L2 orthologues