نتایج جستجو برای: leber hereditomy optic neurophaty
تعداد نتایج: 46273 فیلتر نتایج به سال:
PURPOSE Optic neuritis (ON) is a demyelinating disorder affecting optic nerves. It has certain similarities to Leber hereditary optic neuropathy (LHON) and other spontaneous optic neuropathies known to be associated with mitochondriopathies. We evaluated patients with optic neuritis for evidence of systemic mitochondrial abnormalities. METHODS Patients were selected who had ON affecting one o...
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...
Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome are the most frequent. Here, we describe the first germinal pathogenic mutation in the NDUFA13/GRIM19 gene encoding a CI subunit, in two sisters with early onset hypotonia, dyskinesia and sensorial deficiencies, including a severe optic ...
1. Weleber RG, Francis PJ, Trzupek KM. Leber ongenital amaurosis 2004 [Updated 2010]. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviewsTM [Internet] (WA): University of Washington, 1993, from: http://www.ncbi.nlm.nih.gov/books/NBK1298/ 2. Bainbridge JW, Smith AJ, Barker SS et al. Effect of gene therapy on visual function in Leber’s congenital amaurosis. N Engl J Med 2008: 358 (21): 2231...
A 20-year-old otherwise healthy male, with a known family history of Leber hereditary optic neuropathy (LHON) presents with acute visual loss in one eye. He is accompanied at his appointment by his elder brother who lost vision in both eyes 3 years earlier and by his sister who is asymptomatic. They all ask you what can possibly be done. The past two decades have witnessed remarkable advances i...
Leber hereditary optic neuropathy (LHON) causes visual loss, predominantly in healthy young men. We recently examined a patient who previously had bilateral macular holes and subsequently developed LHON at 74 years of age. Although his central scotomas were initially attributed to the macular holes, his visual acuity declined following an initial improvement after operative closure of the macul...
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