当前位置： SCI文献检索 > INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE期刊下所有文献 > Quality of life in patients with leber hereditary optic neuropathy.

Quality of life in patients with leber hereditary optic neuropathy.

Abstract：

PURPOSE:Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial optic neuropathy characterized by bilateral, severe loss of central vision. In this study, the first formal assessment was conducted of visual disability in affected and unaffected individuals from molecularly confirmed LHON pedigrees. METHODS:Four hundred two LHON carriers--196 affected and 206 unaffected--from 125 genealogically distinct pedigrees were prospectively interviewed using the well-validated visual function index (VF-14) questionnaire: m.3460G>A (n = 71), m.11778G>A (n = 270), and m.14484T>C (n = 61). RESULTS:The mean age of onset of visual loss was 27.9 years (SD, 14.9) and mean disease duration was 15.5 years (SD, 15.4), with 74.5% of the affected subjects being men. The mean VF-14 score was 25.1 (SD, 20.8) in the affected patients, compared with 97.3 (SD, 7.1) in the unaffected carriers. Within the affected group, VF-14 score did not worsen with increasing disease duration and individuals with the m.14484T>C mutation had higher VF-14 scores compared with those in the m.3460G>A and m.11778G>A groups. Reading small print and reading a newspaper or book were the two VF-14 items that presented the greatest difficulty. CONCLUSIONS:LHON has a severe negative impact on quality of life and has the worst VF-14 score when compared with other previously studied ophthalmic disorders. However, affected LHON carriers can be reassured that their level of visual impairment is unlikely to progress with time. The VF-14 questionnaire will be a useful tool for assessing the natural history of LHON and measuring outcome in future treatment trials.

journal_name

Invest Ophthalmol Vis Sci

journal_title

Investigative ophthalmology & visual science

authors

Kirkman MA,Korsten A,Leonhardt M,Dimitriadis K,De Coo IF,Klopstock T,Griffiths PG,Hudson G,Chinnery PF,Yu-Wai-Man P

doi

10.1167/iovs.08-3166

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

3112-5

issue

7

eissn

0146-0404

issn

1552-5783

pii

iovs.08-3166

journal_volume

50

pub_type

杂志文章

相关文献

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE文献大全
  • Vertical and horizontal thickness profiles of the corneal epithelium and Bowman's layer after orthokeratology.

    abstract：PURPOSE:To investigate thickness profile changes of the corneal epithelium and Bowman's layer at the vertical and horizontal meridians with overnight myopia orthokeratology (OK) lenses. METHODS:Twenty subjects (age range: 19-33 years) wore reverse-geometry rigid gas-permeable OK lenses in both eyes for 30 days. Before...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.12-10263

    authors： Lian Y,Shen M,Jiang J,Mao X,Lu P,Zhu D,Chen Q,Wang J,Lu F

    更新日期：2013-01-23 00:00:00

  • Behavior of SD-OCT-detected hyperreflective foci in the retina of anti-VEGF-treated patients with diabetic macular edema.

    abstract：PURPOSE:Hyperreflective foci (HFs) are observable within the neurosensory retina in diabetic macular edema (DME) using spectral domain optical coherence tomography (SD-OCT). HFs have also been seen in wet age-related macular degeneration (AMD), although the origin is still unknown; however, they reduced significantly d...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.12-9950

    authors： Framme C,Schweizer P,Imesch M,Wolf S,Wolf-Schnurrbusch U

    更新日期：2012-08-24 00:00:00

  • Transiently raised intraocular pressure reveals pattern electroretinogram losses in ocular hypertension.

    abstract：PURPOSE:It is known that the pattern electroretinogram (PERG) of normal subjects is reduced temporarily after short-term elevation of intraocular pressure (IOP). The authors evaluated PERG changes in ocular hypertension during and after transient IOP elevation. METHODS:Steady state (8 Hz) PERGs to sinusoidal gratings ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Colotto A,Falsini B,Salgarello T,Buzzonetti L,Cermola S,Porrello G

    更新日期：1996-12-01 00:00:00

  • Introduction of DNA into the rat and primate trabecular meshwork by fusogenic liposomes.

    abstract：PURPOSE:To evaluate the feasibility of introducing exogenous genes and phosphorothioate oligonucleotides into the anterior chamber tissues of rats and monkeys using the authors' fusogenic liposomes. METHODS:Hemagglutinating virus of Japan liposomes containing LacZ DNA-high-mobility group 1 complexes or fluorescein iso...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Hangai M,Tanihara H,Honda Y,Kaneda Y

    更新日期：1998-03-01 00:00:00

  • Treatment dose-response in amblyopia therapy: the Monitored Occlusion Treatment of Amblyopia Study (MOTAS).

    abstract：PURPOSE:Amblyopia is the commonest visual disorder of childhood. Yet the contributions of the two principal treatments (spectacle wear and occlusion) to outcome are unknown. This study was undertaken to investigate the dose-response relationship of amblyopia therapy. METHODS:The study comprised three distinct phases: ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.04-0250

    authors： Stewart CE,Moseley MJ,Stephens DA,Fielder AR

    更新日期：2004-09-01 00:00:00

  • Reduced toxicity of liposome-associated amphotericin B injected intravitreally in rabbits.

    abstract：:The ocular toxicity of liposome-intercalated amphotericin B and commercial amphotericin B were compared after intravitreal injection in healthy pigmented rabbits. Ophthalmoscopic observations over 5 weeks following a single intravitreal injection showed vitreal band formation and focal retinal damage after doses of co...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Tremblay C,Barza M,Szoka F,Lahav M,Baum J

    更新日期：1985-05-01 00:00:00

  • Synthesis of group II phospholipase A2 and lysozyme in lacrimal glands.

    abstract：PURPOSE:The aim of this study was to demonstrate the synthesis and cellular distribution of group II phospholipase A2 and lysozyme in the main and accessory lacrimal glands. METHODS:The authors studied samples of normal main lacrimal glands of seven autopsied subjects and accessory lacrimal glands of eight patients wh...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Aho HJ,Saari KM,Kallajoki M,Nevalainen TJ

    更新日期：1996-08-01 00:00:00

  • Influence of intraocular pressure on aqueous outflow facility in enucleated eyes of different mammals.

    abstract：:Freshly enucleated monkey, calf, and human eyes were quantitatively perfused with mock aqueous humor through the anterior chamber by a constant pressure technique. After baseline perfusion at 15 mm Hg, intraocular pressure was raised to 45 mm Hg and later reduced back to 15 mm Hg. Calf and human (both adult and infant...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Hashimoto JM,Epstein DL

    更新日期：1980-12-01 00:00:00

  • Preproinsulin mRNA in the rat eye.

    abstract：PURPOSE:The goal of this study was to extend the results of previous immunoassay, immunocytochemistry, and in situ hybridization studies showing the presence of insulin-related peptide in the rat retina by confirming the expression of insulin genes in the rat eye. METHODS:Total and poly(A)+ RNA were isolated from whol...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Budd GC,Pansky B,Glatzer L

    更新日期：1993-02-01 00:00:00

  • Comparison of Alternative Tumor Size Classifications for Posterior Uveal Melanomas.

    abstract：Purpose:Determine which posterior uveal melanoma (PUM) size classification with three categories has the best prognostic discrimination. Methods:Single-institution study of 424 consecutive patients with PUM. The tumor's largest basal diameter (LBD), smallest basal diameter (SBD), and thickness (TH) were estimated by f...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.16-20465

    authors： Skinner CC,Augsburger JJ,Augsburger BD,Correa ZM

    更新日期：2017-07-01 00:00:00

  • β-Zone parapapillary atrophy and the rate of retinal nerve fiber layer thinning in glaucoma.

    abstract：PURPOSE:To evaluate whether β-zone parapapillary atrophy (PPA) is associated with the rate of retinal nerve fiber layer (RNFL) thickness change as assessed by trend-based analysis using time-domain optical coherence tomography (OCT). METHODS:This retrospective cohort study included 202 glaucomatous eyes that were obse...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-6818

    authors： Lee EJ,Kim TW,Weinreb RN,Park KH,Kim SH,Kim DM

    更新日期：2011-06-22 00:00:00

  • Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis.

    abstract：PURPOSE:Late infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder characterized by progressive vision loss. The disease results from mutations in the TPP1 (CLN2) gene. Studies were undertaken to characterize the effects of a TPP1 frameshift mutation on the retina in Dachshunds. METHODS:A litter of f...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.08-1712

    authors： Katz ML,Coates JR,Cooper JJ,O'Brien DP,Jeong M,Narfström K

    更新日期：2008-06-01 00:00:00

  • Deficient Binocular Combination of Second-Order Stimuli in Amblyopia.

    abstract：PURPOSE:Sensory imbalances in humans with amblyopia have been well documented using luminance-modulated (first-order) stimuli. However, little is known regarding whether there is a deficient binocular combination in amblyopes for stimuli defined by modulations in contrast (second-order stimuli). To address this, we ask...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.15-18253

    authors： Zhou J,Liu R,Feng L,Zhou Y,Hess RF

    更新日期：2016-04-01 00:00:00

  • Corneal electroretinographic function rescued by normal retinal pigment epithelial grafts in retinal degenerative Royal College of Surgeons rats.

    abstract：PURPOSE:This study was designed to examine whether retinal function can be rescued by allogeneic normal retinal pigment epithelial (RPE) grafts in Royal College of Surgeons (RCS) with retinal degeneration and, if so, whether this rescued function can be measured and followed by recording the corneal electroretinogram (...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Jiang LQ,Hamasaki D

    更新日期：1994-12-01 00:00:00

  • Origin and biosynthesis of human tear fluid proteins.

    abstract：:In tear fluid, a large number of proteins can be detected with electrophoretic or immunologic techniques. The composition of serum proteins in tears resembles that of whole serum. By comparison of the protein patterns resulting from different sampling methods, it was shown that serum albumin is not present in the secr...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Janssen PT,van Bijsterveld OP

    更新日期：1983-05-01 00:00:00

  • Age-Specific Prevalence of Visual Impairment and Refractive Error in Children Aged 3-10 Years in Shanghai, China.

    abstract：Purpose:We assessed changes in age-specific prevalence of refractive error at the time of starting school, by comparing preschool and school age cohorts in Shanghai, China. Methods:A cross-sectional study was done in Jiading District, Shanghai during November and December 2013. We randomly selected 7 kindergartens and...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章,多中心研究

    doi：10.1167/iovs.16-20243

    authors： Ma Y,Qu X,Zhu X,Xu X,Zhu J,Sankaridurg P,Lin S,Lu L,Zhao R,Wang L,Shi H,Tan H,You X,Yuan H,Sun S,Wang M,He X,Zou H,Congdon N

    更新日期：2016-11-01 00:00:00

  • Effects of prostaglandins F2 alpha, A2, and their esters in glaucomatous monkey eyes.

    abstract：:The effect of prostaglandin (PG) F2 alpha-isopropyl ester (IE), PGA2, or PGA2-IE on intraocular pressure (IOP) was tested in eight cynomolgus monkey eyes with argon laser-induced glaucoma. Dose-response testing and baseline IOP measurements were done. For multiple dose testing, 5 micrograms in 25 microliters (0.02%) o...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Wang RF,Camras CB,Lee PY,Podos SM,Bito LZ

    更新日期：1990-11-01 00:00:00

  • Retinal pigment epithelium cells can influence endothelial cell plasminogen activators.

    abstract：:Endothelial cells from both human retinal microvessels (HME) and fetal bovine aortic endothelium (FBAE) were grown in aggregate cultures alone, or with either retinal pigment epithelium (RPE) cells or fibroblasts. The levels of plasminogen activator (PA) and plasminogen activator inhibitor (PAI) in the conditioned med...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Moisseiev J,Jerdan JA,Dyer K,Maglione A,Glaser BM

    更新日期：1990-06-01 00:00:00

  • Migration of retinal cells through a perforated membrane: implications for a high-resolution prosthesis.

    abstract：PURPOSE:One of the critical difficulties in design of a high-resolution retinal implant is the proximity of stimulating electrodes to the target cells. This is a report of a phenomenon of retinal cellular migration into a perforated membrane that may help to address this problem. METHODS:Mylar membranes with an array ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.03-1327

    authors： Palanker D,Huie P,Vankov A,Aramant R,Seiler M,Fishman H,Marmor M,Blumenkranz M

    更新日期：2004-09-01 00:00:00

  • Monoallelic expression of Krt12 gene during corneal-type epithelium differentiation of limbal stem cells.

    abstract：PURPOSE:The purpose of this study was to characterize a Krt12-Cre knock-in mouse line for corneal epithelium-specific gene ablation and to analyze the allelic selection of the keratin 12 (Krt12) gene during corneal type-epithelium differentiation. METHODS:Knock-in mice were generated by gene targeting. The authors exa...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-5331

    authors： Hayashi Y,Call MK,Liu CY,Hayashi M,Babcock G,Ohashi Y,Kao WW

    更新日期：2010-09-01 00:00:00

  • Cholesterol, phospholipid, and protein changes in focal opacities in the human eye lens.

    abstract：PURPOSE:Focal opacities are signs of early cataractogenesis in the human lens. They progress slowly over a lifetime and may be precursors of mature cataracts. The authors analyzed changes in proteins, phospholipids, and cholesterol in these opacities using in situ techniques: Raman microspectroscopy, filipin cytochemis...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Duindam JJ,Vrensen GF,Otto C,Greve J

    更新日期：1998-01-01 00:00:00

  • Predictive value of the pattern electroretinogram in high-risk ocular hypertension.

    abstract：PURPOSE:The pattern electroretinogram (PERG) is reduced in early glaucoma and in some eyes with ocular hypertension (OHT). This study was designed to test the ability of the PERG to predict the development of visual field loss in OHT eyes. METHODS:In 29 eyes of 18 patients with high-risk OHT, the visual fields were te...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Pfeiffer N,Tillmon B,Bach M

    更新日期：1993-04-01 00:00:00

  • Revisiting Ciliary Muscle Tendons and Their Connections With the Trabecular Meshwork by Two Photon Excitation Microscopic Imaging.

    abstract：PURPOSE:To elucidate the anatomy of the trabecular meshwork (TM) and its connection to ciliary muscle (CM) tendons with two photon excitation microscopic (TPEM) imaging. METHODS:The human aqueous outflow pathway was imaged in an unfixed and nonembeded state by using an inverted TPEM. Laser (Ti:Sapphire) was tuned at 8...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.15-17091

    authors： Park CY,Lee JK,Kahook MY,Schultz JS,Zhang C,Chuck RS

    更新日期：2016-03-01 00:00:00

  • Adult rabbit retinal transplants.

    abstract：PURPOSE:To study the survival of adult retinal grafts prepared in a physiologically optimized way. METHODS:Twenty-three rabbits received an adult full-thickness rabbit retinal transplant positioned under the host retina, using a vitrectomy technique. The transplants were prepared using a procedure based on a previousl...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Wassélius J,Ghosh F

    更新日期：2001-10-01 00:00:00

  • Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

    abstract：PURPOSE:Mutations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, and umbilical abnormalities. Identification of cis-regulatory elements of PITX2 is important to better understand the mechanisms of disease. METHODS:Conserved noncoding elements surrounding PITX2/pitx2 were id...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-6060

    authors： Volkmann BA,Zinkevich NS,Mustonen A,Schilter KF,Bosenko DV,Reis LM,Broeckel U,Link BA,Semina EV

    更新日期：2011-03-18 00:00:00

  • Oscillatory eye movements resembling pendular nystagmus in normal juvenile macaques.

    abstract：PURPOSE:Juvenile monkeys being trained on smooth-pursuit tasks exhibit ocular oscillations resembling pendular nystagmus. The purpose of this study was to analyze these oscillations, the effects of gabapentin on them, and responses of cerebellar floccular neurons to understand possible neuronal mechanisms. METHODS:Fou...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-5903

    authors： Shichinohe N,Barnes G,Akao T,Kurkin S,Fukushima J,Kase M,Leigh RJ,Belton T,Fukushima K

    更新日期：2011-06-01 00:00:00

  • Imaging Glaucomatous Damage Across the Temporal Raphe.

    abstract：PURPOSE:To image and analyze anatomical differences at the temporal raphe between normal and glaucomatous eyes using adaptive optics scanning laser ophthalmoscopy (AOSLO) and optical coherence tomography (OCT), and to relate these differences to visual field measurements. METHODS:Nine glaucomatous eyes of 9 patients (...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.15-16730

    authors： Huang G,Luo T,Gast TJ,Burns SA,Malinovsky VE,Swanson WH

    更新日期：2015-06-01 00:00:00

  • A double-blind placebo-controlled study to evaluate valacyclovir alone and with aspirin for asymptomatic HSV-1 DNA shedding in human tears and saliva.

    abstract：PURPOSE:To test the effect of valacyclovir alone and with aspirin on the asymptomatic shedding of HSV-1 DNA in tears and saliva of healthy individuals. METHOD. The subjects (n = 45) were randomized into three groups without regard to age, sex, or race. Group 1 (n = 14) received the placebo, group 2 (n = 15) received a ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章,随机对照试验

    doi：10.1167/iovs.09-3729

    authors： Kumar M,Hill JM,Clement C,Varnell ED,Thompson HW,Kaufman HE

    更新日期：2009-12-01 00:00:00

  • Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci.

    abstract：Purpose:Keratoconus (KTCN) is a complex eye disorder resulting in loss of visual function. Its development is affected by genetic and environmental components. The aim of this study was to unravel the role of epigenetic factors in KTCN. Methods:To verify if DNA methylation may play a role in KTCN development, reduced ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.18-25916

    authors： Kabza M,Karolak JA,Rydzanicz M,Udziela M,Gasperowicz P,Ploski R,Szaflik JP,Gajecka M

    更新日期：2019-04-01 00:00:00

  • Endothelium-dependent regulation of the ophthalmic microcirculation in the perfused porcine eye: role of nitric oxide and endothelins.

    abstract：PURPOSE:The endothelium produces nitric oxide and endothelin (ET). This study was designed to investigate the endothelium-dependent regulation of the porcine ophthalmic microcirculation. METHODS:Isolated porcine eyes were perfused with a modified Langendorff setup (Hugo Sachs Elektronik KG, Freiburg, Germany) at a per...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Meyer P,Flammer J,Lüscher TF

    更新日期：1993-12-01 00:00:00