نتایج جستجو برای: leber hereditomy optic neurophaty
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An animal model of Leber hereditary optic neuropathy (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse. Mice with this mutation exhibited reduction in retinal function by elecroretinogram (ERG), age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria...
In order to analyze the meteorological factors possibly influencing the monosymptomatic optic neuritis in Rijeka County, northwestern part of Croatia, retrospective analysis of all cases diagnosed in Rijeka County in period from 1977 to 2001, was done. Meteorological data on monthly and yearly temperature, humidity, insolation in Rijeka County were collected from Croatian Meteorological and Hyd...
Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease caused by mutations in DNA affecting the respiratory complex I and leading to death of retinal ganglion cells (RGCs) [1]. It characterized sudden onset usually severe bilateral loss central vision, predominantly young men [2]. The risk vision 50% among 10% women who carry LHON primary [3]. We report an atypic case 11 years old ...
PURPOSE Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy. METHODS A cohort of 193 Chinese families with suspected hereditary optic neuropa...
Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA, and mutation-free induced pluripotent stem cells (iPSCs) were generated subsequently. Retinal ganglion cell (RGC) differentiation demonstrates increased cell death in LHON-RGCs and can be rescued in cybrid corrected RGCs.
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