Leber hereditary optic neuropathy
Leber hereditary optic neuropathy: current perspectives
... Abstract: Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision ...
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Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation
... Background: Patients with Leber hereditary optic neuropathy (LHON) have a progressive decrease of their visual acuity which can deteriorate to <0.1. Some patients can have a partial ...
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<p>A study protocol for evaluating the efficacy and safety of skin electrical stimulation for Leber hereditary optic neuropathy: a single-arm, open-label, non-randomized prospective exploratory study</p>
... Background: Leber hereditary optic neuropathy (LHON) is a maternally inherited disease caused by three missense mutations of mitochondrial (mt) DNA, ie, m 3460 G>A, m 11778 G>A, or m ...
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Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.
... The nucleotide sequences of the mitochondrial genomes from patients with Leber hereditary optic neuropathy (LHON) were used for phylogenetic analysis to study the origin and pop[r] ...
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Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically induced rotenone mouse model of Leber hereditary optic neuropathy
... pathology. Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial ...to optic nerve degeneration and ...
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Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
... When comparing LHON-MS with MS, shared features are age at onset, predilection for women, and predominance of the RRMS phenotype (71.1%). However, important differences from MS in our study are the high proportion of ...
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Mitochondrial DNA mutation m 10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
... best visual acuity is 0.2 for the right eye and 0.1 for the left eye at the time of his visit to our clinic. Fundus observa- tion revealed mild pale of the optic disc in the right eye and mild edema of the ...
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Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients
... The peak age of LHON onset is between 15–30 years and 95 % of carriers who will experience visual failure will do so before the age of 50 years [22]. However, visual de- terioration can occur any time during the first to ...
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Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye
... LHON: Leber ’ s hereditary optic neuropathy; MELAS: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; MRI: Magnetic resonance imaging; MS: Multiple sclerosis; mtDNA: ...
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Juvenile open-angle Glaucoma associated with Leber’s hereditary optic neuropathy: a case report and literature review
... undergoing therapy with timolol 0.5%, his IOP was ap- proximately 20 mmHg in both eyes. His BCVA gradually decreased from 20/200 in both eyes in 2006 to counting fingers at 25-30 cm in both eyes in 2016. Gonioscopy ...
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Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
... Four new missense mutations have been identified through restriction analysis and sequencing of the mitochondrial DNAs (mtDNA) from Leber’s hereditary optic neuropathy (LHON) [r] ...
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Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy
... Leber’s hereditary optic neuropathy (LHON, OMIM 535000), with a prevalence higher than 3/100,000, is the most common primary mitochondrial DNA (mtDNA) dis- ...the optic disc becomes ...
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The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5 Hexanedione Toxicity
... The results of the present in vitro study, which was designed only for a ‘‘proof of principle’’ demonstration, not necessarily can be directly translated into the effects of real-life exposure to 2,5-HD in human subjects ...
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Characterization of macular thickness changes in Leber’s hereditary optic neuropathy by optical coherence tomography
... Comparing patients with normal subjects within 3 months, the MT in the cube average thickness, in all quadrants of the inner ring and in the nasal quadrant of the outer ring were significantly thinner in this study. ...
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Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
... Recent studies provided some molecular evidence that estrogens activate the antioxidant enzyme superoxide dismutase 2 and also the mitochondrial biogenesis and thus play a role in maintaining vision in female LHON ...
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Macular thickness changes in a patient with Leber’s hereditary optic neuropathy
... bundle in LHON [5]. In the present LHON patient, indeed, the only temporal quadrant of cpRNFL became thinner than normal controls until 6 months. In con- trast, the other quadrants (superior, inferior, and nasal) became ...
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Diseases associated with Flammer Syndrome: An Update
... Leber’s hereditary optic neuropathy [LHON] is a rare inherited disease resulting from mutations in maternal mitochondrial DNA [mtDNA]. LHON leads to acute or subacute visual loss beginning in one ...
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<p>Optical Coherence Tomography Angiography in Neurodegenerative Diseases: A Review</p>
... non-arteritic optic neuropathy (AION and NAION), Leber ’ s hereditary optic neuropathy (LHON) papilloedema, Parkinson ’ s disease, Huntington ’ s disease, amyotrophic lateral ...
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Studies on the genetics and molecular pathogenesis of mitochondrial respiratory chain disorders
... The optic discs appeared normal, and there was no peripapillary ...blind. Optic disc pallor developed after a few ...Leber’s hereditary optic neuropathy (LHON) was ...
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