Annamaria De Negri

TL;DR: Giordano et al. show that mitochondrial DNA content and mitochondrial mass are both increased in tissues and cells from unaffected mutation carriers relative to affected relatives and control individuals, suggesting upregulation of mitochondrial biogenesis may represent a therapeutic target.

TL;DR: For the first time, on the administration of idebenone in seven consecutive patients with dominant optic atrophy carrying OPA1 mutations in an open-label trial, results are reported on.

TL;DR: The DOA patients carrying OPA1 gene mutations present, as a group, a significantly smaller ONH compared with the range of size observed in a control population; this feature may be mutation specific.

TL;DR: A maternally inherited mitochondrial DNA (mtDNA) mutation is necessary but not sufficient to develop optic neuropathy as mentioned in this paper, however, there is a certain degree of heterogeneity in clinical expression, ranging from mild to severe cases, and the rates of spontaneous recovery of vision vary with mutation type.

TL;DR: It is demonstrated that in DOA, loss of macular RGCs is the earliest pathologic event, better reflected by GC-IPL measurements, whereas RNFL thickness is a measure of spared axons in late stages of the disease.