نتایج جستجو برای: g11778a
تعداد نتایج: 54 فیلتر نتایج به سال:
Dear Editor, Leber’s hereditary optic neuropathy (LHON) is an inherited disorder that causes visual loss predominantly in young men. More than 90% of LHON cases are due to one of the following three primary mitochondrial DNA point mutations: G3460A, G11778A, and T14484C.1 While the T14484C mutation is known to show milder pathogenicity and a better outcome than the other mutations,2 here we rep...
Cell and tissue damage in respiratory chain disorders have been related to increased production of reactive oxygen species (ROS). We measured telomere lengths in such disorders since ROS have also been implicated with telomere shortening. We investigated whole blood cell DNA of 14 patients with MELAS-related mitochondriopathy and two patients with the LHON-associated G11778A mutation of the mit...
Report of a Case. A 42-year-old woman noted vision loss in August 2009. Visual acuity was 20/80 (55 Early Treatment Diabetic Retinopathy Study [ETDRS] letters) OD and 20/40 (71 ETDRS letters) OS. Automated visual field testing revealed bilateral central scotomas, with mean defects of −2.31 dB OD and −0.80 dB OS (Figure 1). The optic nerve heads were swollen with peripapillary telangiectasias ch...
CASE REPORT Two clinical cases are presented of two family relatives newly diagnosed with Leber hereditary optic neuropathy (LHON) and G11778A mutation analysis by optical coherence tomography (Cirrus HD-OCT, Carl Zeiss Meditec, Dublin, California, USA) layer peripapillary fibers retina (RNFL) and ganglion cell and internal plexiform layers (GCL/IPL) using macular segmentation. DISCUSSION The...
PURPOSE Although mutated G11778A NADH ubiquinone oxidoreductase subunit 4 (ND4) mitochondrial DNA (mtDNA) is firmly linked to the blindness of Leber hereditary optic neuropathy (LHON), a bona fide animal model system with mutated mtDNA complex I subunits that would enable probing the pathogenesis of optic neuropathy and testing potential avenues for therapy has yet to be developed. METHODS Th...
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