نتایج جستجو برای: lhon
تعداد نتایج: 362 فیلتر نتایج به سال:
PURPOSE We assessed retinal ganglion cell (RGC) function, and established a correlation between the neural conduction along the visual pathways and the retinal involvement in Leber's hereditary optic neuropathy (LHON). METHODS A total of 39 individuals carrying a LHON mutation (mean age, 33.35 ± 8.4 years), LHON-unaffected (LU, 22 eyes) or LHON-affected (LA, 17 eyes), underwent visual acuity ...
We assessed abnormalities within the principal brain resting state networks (RSNs) in patients with Leber's hereditary optic neuropathy (LHON) to define whether functional abnormalities in this disease are limited to the visual system or, conversely, tend to be more diffuse. We also defined the structural substrates of fMRI changes using a connectivity-based analysis of diffusion tensor (DT) MR...
Leber's Hereditary Optic Neuropathy (LHON) is a neurodegenerative mitochondrial disease characterized by retinal ganglionic cell death and eventual loss of central vision. Specific mtDNA mutations in respiratory complex I subunits (ND4/ND6/ND1) coding genes have been identified in most of LHON patients, and these mutations have been shown to cause mitochondrial dysfunctions leading to increased...
Leber's hereditary optic neuropathy (LHON) is a retinal neurodegenerative disorder caused by mitochondrial DNA point mutations. Complex I of the respiratory chain affected by the mutation results in a decrease in ATP and an increase of reactive oxygen species production. Evaluating the efficacy of minocycline in LHON, the drug increased the survival of cybrid cells in contrast to the parental c...
Neuromyelitis optica (NMO), or Devic’s disease, is a relapsing demyelinating disease of the central nervous system characterized by optic neuritis and myelitis with distinct clinical, imaging, CSF and serological features (Wingerchuk et al., 2006). There is increasing evidence that NMO is an antibody-mediated organ-specific autoimmune disease associated with anti-aquaporin 4 antibodies detectab...
PURPOSE We conducted extensive epidemiological, neuro-ophthalmological, psychophysical, and blood examinations on a newly discovered, very large pedigree with molecular analysis showing mtDNA mutation for Leber's hereditary optic neuropathy (LHON). METHODS Four patients representing four index cases from a remote area of Brazil were sent to Sao Paulo, where complete ophthalmological examinati...
PURPOSE To determine whether asymptomatic 11778 LHON carriers demonstrated impairments in (1) chromatic red/green (R/G) and blue/yellow (B/Y) contrast sensitivity functions (CSF) and in (2) luminance contrast sensitivity functions in the spatial CSF (SCSF) and temporal CSF (TCSF) domains. METHODS Twenty-five carriers (8 male, 17 female; 34.1 +/- 15.1 years of age) of homoplasmic 11778 LHON fr...
OBJECTIVE To describe the patient profiles of the Leber hereditary optic neuropathy (LHON) Gene Therapy Clinical Trial, year 1. This study aims to identify and characterize affected patients and carriers with the G11778A mutation in mitochondrial DNA for planned gene therapy that will use "allotopic expression" by delivering a normal nuclear-encoded ND4 gene into the nuclei of retinal ganglion ...
The mitochondrial haplogroup has been reported to affect the clinical expression of Leber's hereditary optic neuropathy (LHON). The present study aimed to investigate the interaction between mutations and the haplogroup of mitochondrial DNA (mtDNA) in families. Two unrelated families with LHON were enrolled in the study, and clinical, genetic and molecular characterizations were determined in t...
PURPOSE To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON), optic atrophy of unknown etiology, and optic neuropathy of known etiology. METHODS Twenty-seven patients from 25 LHON pedigrees, 22 patients with bilateral optic atrophy of unknown etiology, 21 patients with optic neuropathy of known etiology, and 25 ...
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