نتایج جستجو برای: leber hereditomy optic neurophaty

تعداد نتایج: 46273  

2011
Geoffrey Portelli Franck Ruffier Frédéric L. Roubieu Nicolas Franceschini

Flying insects use the optic flow to navigate safely in unfamiliar environments, especially by adjusting their speed and their clearance from surrounding objects. It has not yet been established, however, which specific parts of the optical flow field insects use to control their speed. With a view to answering this question, freely flying honeybees were trained to fly along a specially designe...

2012
Shuo Wang Masaki Fukuchi Christof Koch Naotsugu Tsuchiya

While a single approaching object is known to attract spatial attention, it is unknown how attention is directed when the background looms towards the observer as s/he moves forward in a quasi-stationary environment. In Experiment 1, we used a cued speeded discrimination task to quantify where and how spatial attention is directed towards the target superimposed onto a cloud of moving dots. We ...

2003
David Mackey Steve Nasioulas Susan Forrest

Individuals from 33 unrelated Australian families with optic atrophy were screened for 10 different single base alterations in mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy (LHON) using direct polymerase chain reaction amplification of blood spots collected on Guthrie cards. This method using blood spots allows easily accessible screening forLHON mtDNA mutations wi...

2017
Kaori Ueda Yuki Morizane Fumio Shiraga Keigo Shikishima Hitoshi Ishikawa Masato Wakakura Makoto Nakamura

BACKGROUND Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. Thus, we estimated the annual incidence of molecularly confirmed LHON in Japan...

Journal: :Journal of Education, Health and Sport 2022

Introduction: Optic neuropathies are a broad group of diseases in which the dominant disturbance is damage to optic nerve, often irreversible. Underlying causes neuropathy both genetic and environmental. Despite limited treatment options, much research currently being done on substances that could improve nerve function alleviate clinical consequences damage.
 Purpose: This article describ...

2010
Barend F.T. Hogewind Ronald J.E. Pennings Frans A. Hol Henricus P.M. Kunst Elisabeth H. Hoefsloot Johannes R.M. Cruysberg Cor W.R.J. Cremers

PURPOSE To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series. METHODS Seven members of a Dutch family underwent ophthalmological, otological, and genetical examinations in one institution. Fasting serum glucose was assessed in the affected family memb...

Journal: :Current opinion in ophthalmology 2015
Jason H Peragallo Nancy J Newman

PURPOSE OF REVIEW To discuss recent advances in potential treatments for Leber hereditary optic neuropathy (LHON), a typically visually devastating hereditary optic neuropathy caused by mutations in the mitochondrial genome. RECENT FINDINGS Idebenone has been proposed as a means of bypassing defective complex I activity and a free radical scavenger to prevent oxidative damage. EPI-743 may hav...

Journal: :Archives of ophthalmology 2012
Fawzi Abukhalil Byron L Lam John Guy

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...

2017
A. Majander A.G. Robson C. João G.E. Holder P.F. Chinnery A.T. Moore M. Votruba A. Stockman P. Yu-Wai-Man

Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal visual evoked potentials, pattern electroretinography and the photopic negative response) performed on 13 patients with acute and chronic LHON indic...

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