Mitochondrial optic neuropathies are a heterogenous group of disorders that present with visual disturbances resultant from mitochondrial dysfunction within the anatomy of the Retinal Ganglion Cells (RGC), optic nerve, optic chiasm, and optic tract. These disturbances are multifactorial, their aetiology consisting of metabolic and/or structural damage as a consequence of genetic mutations, environmental stressors, or both. The three most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, and pigmentary retinopathy.[1]
^Biousse, Valérie; Newman, Nancy J. (2001). "Neuro-ophthalmology of Mitochondrial Diseases". Seminars in Neurology. 21 (3): 275–91. doi:10.1055/s-2001-17945. PMID 11641818.
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impact mitochondrial oxidative phosphorylation. Thus, the toxic and nutritional opticneuropathies are actually acquired mitochondrialopticneuropathies. The...
combination can be due to mitochondrial disease, as may occur in Kearns–Sayre syndrome and Pearson syndrome Leber's hereditary opticneuropathy (LHON) LHON is an...
inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary opticneuropathy. It was first characterized under this name in 1984. A feature of these...
include Kearns–Sayre syndrome, MELAS syndrome and Leber's hereditary opticneuropathy. In the vast majority of cases, these diseases are transmitted by a...
01242.x. PMID 11589750. S2CID 42351889. Sadun, A. A (2002). "Mitochondrialopticneuropathies". Journal of Neurology, Neurosurgery, and Psychiatry. 72 (4):...
Lott MT, Wallace DC (August 1992). "A mitochondrial DNA variant, identified in Leber hereditary opticneuropathy patients, which extends the amino acid...
an epidemic of opticneuropathy in Cuba. This work led to further investigations into the role of mitochondria in opticneuropathies due to injury from...
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. Adenosine triphosphate (ATP), the chemical used to provide energy...
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop...
of neurological problems including myelopathy, peripheral neuropathy, and opticneuropathy. Copper deficiency myelopathy in humans was discovered and...
there is only one approved treatment. Leber's hereditary opticneuropathy (LHON) is a mitochondrially inherited (mother to all offspring) degeneration of retinal...
isolated myopathy, severe encephalomyopathy, Leber hereditary opticneuropathy, mitochondrial complex IV deficiency, and recurrent myoglobinuria . The MT-CO3...
mutations is mitochondrial transport and indeed current models propose this defect as the major cause of CMT2A. Mutations in OPA1 also cause optic atrophy...
of disorder is Leber's hereditary opticneuropathy. It is important to stress that the vast majority of mitochondrial diseases (particularly when symptoms...
features include dementia, optic atrophy, bilateral deafness, peripheral neuropathy, spasticity, or multiple lipomata. Mitochondrial disorders, including MERRFS...
neuropathy and Autosomal Dominant Optic Atrophy. The Leber's Neuropathy is caused by a mutation in the Mitochondrial DNA (the DNA located inside the chromosome)...
Valentino ML. Clinical expression of Leber hereditary opticneuropathy is affected by the mitochondrial DNA–haplogroup background.The American Journal of...
cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary opticneuropathy, and some forms of Parkinson disease. High-throughput DNA sequencing...
known as NADH:ubiquinone oxidoreductase, Type I NADH dehydrogenase and mitochondrial complex I) is the first large protein complex of the respiratory chains...
appearance of the optic disk, and (3) the attenuation of blood vessels in size and Arterial/Venous ratio as they enter and exit the optic disk of the retina...
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