Without a known family history of<unk>  the diagnosis usually requires a neuro-ophthalmological evaluation and blood testing for mitochondrial DNA assessment. It is important to exclude other possible causes of vision loss and associated syndromes such as heart electrical conduction system abnormalities.
Leber's hereditary optic neuropathy
Kjer's optic neuropathy
Alexander disease
Graves' ophthalmopathy
Bosch-Boonstra-Schaaf optic atrophy syndrome
Sorsby's fundus dystrophy
Neuromyelitis optica spectrum disorder
Akureyri disease