Devic's neuromyelitis optica is a rare syndrome characterised by the combination of acute or subacute optic neuritis and transverse myelitis, in some cases considered to be a variant of multiple sclerosis. Mutations of mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy (LHON) have been identified in some patients with multiple sclerosis in whom optic neuritis is a promi...

The past two decades have witnessed remarkable advances in our understanding of the clinical presentation, genetics and even the pathophysiology of the hereditary optic neuropathies, specifically Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA)1-4. We now know that most of the hereditary optic neuropathies, including LHON and DOA, have a pathophysiology reflecting a fin...

A 22-year-old woman presented with photopsia, sensory loss, and paresthesia over both lower extremities, visual scotomas, and painless binocular vision loss over 5 months. MRI showed T2 hyperintensities near the optic chiasm (figure 1, B and C), floor of the fourth ventricle and the colliculi (figure 2, A–F), and central gray matter of the spinal cord (figure 1A). CSF analysis was notable for e...

We describe three unrelated patients presenting with a spinal cord syndrome and neuroimaging features consistent with multiple sclerosis (MS). All harbored a pathogenic OPA1 mutation. Although the neurological phenotype resembled neuromyelitis optica (NMO), anti-aquaporin 4 antibodies were not detected and the disorder followed a slow progressive course. The coincidental occurrence of OPA1 muta...

PURPOSE Focal neurodegeneration of the optic nerve in Leber hereditary optic neuropathy (LHON) is primarily due to a maternally inherited mitochondrial DNA mutation. However, the markedly reduced penetrance of LHON and segregation pattern of visual failure within families implicates an interacting nuclear genetic locus modulating the phenotype. Folate deficiency is known to cause bilateral opti...

As with chromosomal DNA, the DNA located in mitochondria (mitochondrial DNA or mtDNA) can contain mutations that are highly pathogenic. In fact, many diseases of the central nervous system are known to be caused by mutations in mtDNA. The possibility that mtDNA mutations contribute to susceptibility to MS has been approached from several different angles, the most well-studied of which has been...

A CONGENITAL vascular anomaly in which one of the main branches of the central retinal artery forms a pre-retinal loop at the optic disc before being distributed in the normal manner has been described by several authors (Liebreich, 1871; Leber, 1915; Bisland, 1953). The condition is usually first noticed on routine examination of an otherwise normal fundus, and remains symptomless throughout l...

PURPOSE Patients with Leber hereditary optic neuropathy (LHON) and cone-rod dystrophy (CRD) have central vision loss; but CRD damages the retinal photoreceptor layer, and LHON damages the retinal ganglion cell (RGC) layer. Using diffusion MRI, we measured how these two types of retinal damage affect the optic tract (ganglion cell axons) and optic radiation (geniculo-striate axons). METHODS Ad...