bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical experience with Raxone® (Idebenone) in the treatment of patients with Leber’s hereditary optic neuropathy (LHON)
Authors: METZ G , GALLENMÜLLER C , VON LIVONIUS B , LOB F , COPPARD N , MEIER T , KLOPSTOCK T 
Published: August 2014

AbstractPurpose LHON is an orphan mitochondrial disorder affecting the retinal ganglion cells leading to permanent blindness from which recovery is rare. Here we report visual acuity outcomes for patients with recent onset who received Raxone® (idebenone) under an ongoing global Expanded Access Program (EAP).Methods Visual acuity was measured in 3‐monthly intervals. Clinically relevant recovery was defined as (i) improvement from nadir by at least 10 letters on the ETDRS chart or (ii) improvement from “off‐chart” at nadir to being able to read at least 5 letters on‐chart.Results Currently there are 61 LHON patients enrolled, of which 48 patients have been treated for an average of 11 months. So far, 24 of 48 patients (50%) have experienced a clinically relevant and stable recovery in VA (89% for T14484C, 70% for G3460A and 31% for G11778A). The average treatment effect size in patients with recovery was 29 letters and 84 % recovered within 12 months of the initiation of the EAP.Conclusion A high proportion of LHON patients treated with idebenone under a global EAP experienced a clinically meaningful recovery of vision, further demonstrating the therapeutic potential of idebenone in the treatment of LHON.
Commercial interest
Electrophysiology in the diagnosis of albinism
Authors: HOLDER GE , NEVEU MM 
Published: August 2014

AbstractAlbinism is a genetically determined disorder of melanin synthesis associated with intracranial visual pathway misrouting, with the majority of fibres from each eye usually decussating to the contralateral cerebral hemisphere. The presentation will detail the use of flash and pattern appearance VEPs in the demonstration of this albino misrouting. It will be demonstrated that the misrouting has a highly variable expression, including uni‐ocular misrouting, and is a spectrum of disease rather than an all‐or‐none phenomenon.
Azithromycin and MGD: Is it possible to turn an off‐label treatment into an on‐label therapy?
Authors: SULLIVAN DA , KAM WR , DING J , LIU Y 
Published: August 2014

AbstractMeibomian gland dysfunction (MGD) is the primary cause of dry eye disease (DED), which afflicts hundreds of millions of people, predominantly women, and is a leading cause of patient visits to eye care practitioners. The impact of moderate to severe DED is comparable to conditions such as dialysis and severe angina, and is associated with significant pain, role limitations, low vitality and poor general health. There is no cure for MGD. The most frequent pharmaceutical treatment in the United States for the management of MGD is the off‐label use of topical azithromycin. This antibiotic is presumed to be effective because of its anti‐inflammatory and anti‐bacterial actions, which may suppress the MGD‐associated posterior blepharitis and growth of lid bacteria. We hypothesize that azithromycin can act directly on human meibomian gland epithelial cells to stimulate their differentiation, enhance the quality and quantity of their lipid production, promote their holocrine secretion and ameliorate MGD pathophysiology. Our results support our hypotheses and may help lead to the approval of topical azithromycin as a safe and effective therapy for human MGD and thereby improve the quality of life of countless people throughout the world.
Commercial interest
Biological mechanism of myopia development
Authors: SCHAEFFEL F 
Published: August 2014

AbstractPurpose. Describing biological mechanisms of visual control of eye growth, based on experiments in animal models. Methods. To induce refractive errors, emmetropic eyes are treated with positive lenses (causing development of hyperopia), negative lenses or diffusers (causing myopia). Ocular biometry by ultrasonography or low coherence interferometry, refractions measured by infrared photoretinoscopy, transcription of candidate genes in fundus by realtime PCR, dopamine and metabolites by HPLC, proteins by immunohistochemistry. Receptor agonists or antagonists are intravitreally injected. Results. Eye growth is locally controlled by the retina which detects the sign of defocus to accelerate or reduce axial eye growth but underlying image processing is not understood. Major retinal signals are dopamine, glucagon (in chick), acetylcholine, NO and retinoic acid. Signals can be divided in image blur, light and diurnally controlled (dopamine) or sign of defocus controlled (glucagon, ZENK/Egr1, retinoic acid). Conclusions. The amount of knowledge accumulated on visual control of eye growth over the past 25 years is abundant but cannot yet prevent myopia that is induced by changes in visual experience in our industrialized world.
Virtual glaucoma clinic in Wales
Authors: MORGAN JE 
Published: August 2014

AbstractThe effective clinical review of increasing numbers of glaucoma patients remains a major challenge. To meet this, we have developed a virtual clinic review module using the OpenEyes electronic medical record for Ophthalmology. OpenEyes is Open Source and browser‐based, allowing considerable flexibility in where patients are seen. The virtual clinic module allows the review of condensed data for any given patient and acts as a link to a summary containing patient visual fields, clinical diagnosis and IOP data. Data are collected by technicians appointed at a level appropriate to the task. Patient data are then reviewed by the supervising clinician. To date the system has been used to managed over 100,000 visual field examinations and 11,000 patient events on over 3,500 patients. The data handling requirements for modern browser based applications (LINUX, Apache, MySQL, PHP) are low, ensuring a rapid data refresh and robust data curation. OpenEyes is highly scaleable and can be run over fixed or wireless networks to provide clinical data provision at the point of care regardless of geographic location. It is available royalty free and provides a firm foundation for collaborative software development.
Cytoskeletal regulators are implicated in fibrosis in mechanical injury and infection in the mouse cornea
Authors: BEUERMAN R 
Published: August 2014

AbstractPurpose: Mechanical injury as well as infection can result in corneal fibrosis and loss of transparency. We have used a mouse model of cornea insult using sterile mechanical injury and infection. Methods: Corneas of 8 week old C57BL6 mice underwent either an anterior keratectomy (AK) wound or infection with Pseudomonas aeruginosa (PA), and animals were sacrificed at 2 and 7 days, as well as 2 and 4 weeks after the procedures. The isolated stroma was used to monitor the expression and location of moesin, phospho‐moesin, TGF‐β1 and α‐SMA. Results: TGF‐β1 and phospho‐moesin were not detected in normal corneal stromas. However, after either treatment, TGF‐β1 expression increased, along with phospho‐moesin and moesin in the wounded corneal stroma from day 2 to 7, and decreased after 2 weeks. No expression of TGF‐β1 and phospho‐moesin was found at PO week 4. Myofibroblasts positive for α‐SMA associated with either treatment were detected from day 2 to week 4 and peaked at week 2. Conclusion: The results suggest a role for moesin signaling in corneal fibrosis. Interfering with the action of moesin is a potential target for interventive strategies to avert corneal fibrosis.
TGF‐beta in ocular angiogenesis
Authors: WANG X , ABRAHAM S , JEFFS N , SWIRE M , LUHMANN U , LANGE C , BAINBRIDGE J , MOSS S , GREENWOOD J 
Published: August 2014

AbstractAbnormal angiogenesis is associated with many blinding eye diseases. Targeting VEGF, a master regulator of blood vessel formation, has shown improved outcomes in ocular vascular disorders. However, many patients do not respond or respond poorly to anti‐VEGF therapy, which is not surprising as angiogenesis is regulated by a delicate balance of diverse molecular signals. Combination therapeutics targeting alternative or complementary pathways may circumvent resistance and enhance efficacy of anti‐VEGF treatment. TGFβ1, a multifunctional cytokine, plays an important but contradictory role during angiogenesis. We recently identified a novel regulator of TGFβ signaling pathway, namely leucine rich α‐2‐glycoprotein‐1 (LRG1). LRG1 defines the context‐dependent effect of TGFβ1 and promotes blood vessel formation by driving the pro‐angiogenic TGFβ1/Smad1/5/8 pathway. Unlike VEGF, LRG1 is specifically required for abnormal blood vessel formation in the eye. LRG1 antibody blockade attenuates the ocular angiogenesis either on its own or in combination with an anti‐VEGF neutralizing antibody. Together, our study provided compelling evidence that LRG1 is an attractive target for therapeutic intervention in ocular vascular complications.
Functional and molecular characterization of ex vivo cultured neuronal‐ and glial‐ like cells from idiopathic epiretinal membranes
Authors: PETROVSKI G , LUMI X , YAN X , GRAW J , FACSKO A , HAWLINA M , ANDJELIC S 
Published: August 2014

AbstractPurpose To test the proliferating potential and characterize the functional and molecular profile of cells growing out of human idopathic epiretinal membranes (iERMs) ex vivo.Methods iERMs were obtained from uneventful vitrectomies from cases with iERM. Preoperative and postoperative BCVA, CFT and TMV were compared. Ex vivo cultivation under adherent conditions was carried out and followed up to 6 days. Morphological and immunocytochemical characterization of the cells was carried out. The dynamics of the intracellular calcium was measured using fluorescent dye Fura‐2 and imaged in response to pharmacological stimulation by acetylcholine (ACh) or mechanostimulation.Results Visual acuity improved in 9/10 patients. CFT and TMV dereased significantly 3 months after surgery. The cells from the iERMs formed sphere‐like structures when cultured ex vivo. The diameter of the spheres increased by 5% at day 6 and kept an increasing tendency over a month. The cells growing out of the iERM spheres had mainly a glial‐ and some neuronal‐ like morphology. Stimulation of these cells with ACh or mechanostimulation induced intracellular calcium propagation in both cell phenotypes – in the neuronal‐like cells resembling action potential from the soma to the dendrites. Immunocytochemistry confirmed presence of glial‐ and neuronal cell phenotype in the iERMs, as well as presence of pluripotency marker.Conclusion iERMs contain cells of neuronal‐ and glial‐ like origin which have proliferative and pluripotent potential, show functionality reflected through calcium dynamics upon ACh and mechano‐ stimulation, and a corresponding molecular phenotype.
Crystalline retinopathy
Authors: NADIM N 
Published: August 2014

AbstractRefractile crystalline deposits in the retina may be a manifestation of drug toxicity.The five drugs known to produce this side effect are: (1)Tamoxifen‐non steroidal estrogen antagonist used in the treatment of breast cancer. (2)Canthaxanthine‐tanning agent for skin pigmentation in vitiligo and for the treatment of photosensitivity in psoriasis and erythrotic porphyrias. (3)Crashed tablets of Methadone, Mepiridine hydrochloride and Methylphenylate that are injected intravenously in drug abusers‐Talc Retinopathy. (4)Methoxyflurane‐an inhalational anesthetic agent . (5)Nitrofurantoin‐an antibiotic used in the treatment of urinary tract infections. Daily doses and cumulative doses that give rise to these deposits will be presented and the fundus/clinical features of each drug as well. Since primary ocular disorders (Bietti's crystalline retinopathy, idiopathic parafoveal telengiectasis, calcified macular drusen) and systemic disorders (oxalosis, cystinosis,Sjogren Larsson syndrome) are known to be associated with crystals in the retina,the differential diagnosis of this clinical entity will be discussed.
Eviscerated eyes unexpectedly containing uveal melanoma
Authors: VAN GINDERDEUREN R , MOMBAERTS I 
Published: August 2014

AbstractPurpose To present two cases with eviscerated eyes containing uveal melanoma and review the literatureMethods All the evisceration specimens from a 15 year period were analyzed for malignancies. A literature search on the accidental finding of intraocular malignancy after evisceration was performedResults We found an incidence of intraocular malignant melanoma of 0.7% (2/315). In these 2 cases, a standard evisceration procedure with implantation of an acrylic ball had been performed for pain in a longstanding blind eye with opaque media. Both patients had a history of glaucoma and massive intraocular hemorrhage, confirmed by repetitive ocular ultrasound (US) and orbital CT. Histopathology showed a large intraocular uveal melanoma with substantial necrosis and haemorrhage After negative screening for metastases, one week following the evisceration an enucleation of the scleral shell and implant was performed, with implantation of a new acrylic ball with donor sclera. External beam radiation of 5,000 cGy was given to the orbital socket. The first patient died from liver metastases 3 years after the diagnosis, without evidence of local recurrence. The second patient has a too short follow‐up The literature is scarce on this subject, with only 9 published cases. US is the mainstay in the screening for intraocular tumors in opaque eyes. There are no guidelines on the management after accidental evisceration of uveal melanomaConclusion Ultrasound can not always distinguish primary choroidal hemorrhage from secondary hemorrhage due to uveal melanoma with necrosis. An atypical clinical history of a blind painful opaque eye with prolonged massive intraocular hemorrhage and ocular hypertension may be suspect for malignant melanoma, in which case evisceration should be avoided
Update on adenoid cystic carcinomas
Authors: VON HOLSTEIN S 
Published: August 2014

AbstractAdenoid Cystic Carcinoma of the Lacrimal Gland: MYB Gene Activation, Genomic Imbalances, and Clinical Characteristics Purpose: To investigate genetic alterations in lacrimal gland adenoid cystic carcinomas (ACC) in relation to clinical data and survival. Methods: The expression and identity of MYB‐NFIB fusion transcripts were studied using RT‐PCR and nucleotide sequence analyses. Q‐PCR and immunohistochemistry were used to evaluate the expression of MYB and MYB‐NFIB target genes. High‐resolution array‐based comparative genomic hybridization (arrayCGH) and FISH were used to study copy number alterations and MYB rearrangements. Results: The median age of the patients were 43 years and the median time of survival was 8.6 years. The MYB‐NFIB fusion was expressed in 7/14 ACCs. All non‐ACC tumors were fusion‐negative. All 13 ACCs tested stained positive for the MYB protein and for the MYB targets KIT and BCL2, 12 were positive for MYC and CCNE1, and nine for CCNB1. Rearrangements of MYB were detected in 8/13 cases. ArrayCGH analysis revealed recurrent copy number alterations with losses involving 6q23‐q27, 12q12‐q14.1, 17p13.3‐p12 and gains involving 19q12, 19q13.31‐qter, 8q24.13‐q24.21, 11q12.3‐q14.1, and 6q23.3. Neither MYB‐NFIB fusion nor any copy number alteration correlated with survival. Conclusions: Lacrimal gland ACCs are genetically and clinically similar to their salivary gland counterparts and MYB‐NFIB is a useful biomarker for ACC. Our data also suggests that MYB and its downstream targets are potential therapeutic targets for these tumors.
Sleep apnoe and perfusion pressure
Authors: KIEKENS S , DE GROOT V 
Published: August 2014

AbstractGlaucomatous disease may progress despite adequate intra ocular pressure (IOP) control. Large population based studies have shown that low ocular perfusion pressure (OPP) is a risk factor for glaucoma prevalence, incidence and progression. OPP can be calculated as the difference between arterial pressure and IOP. Obstructive sleep apnea (OSA) is a systemic condition associated with many eye conditions such as glaucoma. Its systemic implications are modifiable with Continuous positive airway pressure therapy (CPAP). In a population of OSA patients the increase in overnight IOP raise was significantly higher during CPAP therapy. The accompanied dip in nocturnal blood pressure results in a decreased ocular perfusion pressure. Moreover the auto regulatory mechanisms that need to compensate for perfusion pressure changes are affected in OSA by metabolic stresses, hypoxia and hypercapnea. Thus a higher glaucoma prevalence in OSA can be explained by the combination of an increased overnight IOP, decreased OPP and abnormal auto regulatory mechanisms that make the optic nerve more vulnerable for ischemic events.
S.Fyodorov Eye Microsurgery Complex: Past, present and future
Authors: MALYUGIN B , CHUKRAYOV A 
Published: August 2014

AbstractProf. S. Fyodorov is known for his multiple innovations in refractive and cataract surgery fields. He founded Eye Microsurgery Institute in 1980. The main concept was to combine clinical, research, educational and manufacturing activities under one roof. In 1986, Eye Microsurgery Complex was created, headquartered in Moscow with satellite clinics installed in 11 cities. This allowed spreading modern eye surgery technologies, covering all Russian territories and providing high quality eye care. In 2000, after Fyodorov passed away, the Complex started to bear his name. Currently the number of employees is exceeding 4,500 employees. In 2013 all clinics jointly performed over 225,000 eye surgeries. Along with the clinical activities; extensive scientific and educational work is being performed. Wet Labs for teaching ophthalmic surgeries are established in 6 locations including Moscow. Wide range of research activities is focused on the new surgical technologies in cataract and implant surgery, corneal transplantation, laser refractive surgery, glaucoma, pediatric eye care, stem cell research, and many others. Overview of the historical and current activities of the S. Fyodorov Eye Microsurgery Complex will be presented.
Eye neoplasms: a bibliometric analysis from 1966 to 2012
Authors: MOURIAUX F , BOUDRY C 
Published: August 2014

AbstractPurpose To calculate the growth rate of biomedical literature on eye neoplasms and to assess key journals, authors, and country affiliations.Methods PubMed was used to search for papers published from 1966 to 2012. Total number of articles per year was fitted to a linear equation as well as an exponential curve. To identify the core journals and predict the number of journals containing articles related to eye neoplasms, Bradford's law was applied. The mean number of publications per year and per author were calculated. For each country, the Gross Domestic Product (GDP) index (publications per 1 billion US dollars of GPD) and the population index (publications per million inhabitants) were calculated.Results A total of 27 943 references were retrieved. The growth in the number of publications showed a linear increase with a yearly average growth rate of 2.08%. Using Bradford's law, 17 core journals were identified. Only 9 authors published more than 5 papers per year. The United States was by far the predominant country in number of publications, followed by Germany and the United Kingdom. However, population and Gross Domestic Product indexes showed that absolute production did not reflect the production per capita nor the economic efficiencyConclusion This bibliometric study provides data contributing to a better understanding of the eye neoplasm research field.
Intraocular stray light compared with subjective lens grading scores in normal and cataractous eyes
Authors: BARRAQUER R , ALLENDE‐MUñIOZ MJ , PINILLA‐CORTé L , MONTENEGRO G , MICHAEL R 
Published: August 2014

AbstractA European project studying the prevalence of visual function impairment in European drivers (2422 subjects) showed that intraocular stray light correlates with cataract grading scores. Measured intraocular stray light increases continuously with cataract severity, as estimated by the mean of the LOCS score (average of nuclear colour, nuclear opacity, cortical opacity and posterior subcapsular scores divided by four). Mean intraocular stray light for the lowest LOCS score (0.025) is about 1.00 log[s] and with a LOCS score for severe cataract (> 0.75) about 1.44 log[s]. This corresponds to a more than threefold increase in stray light. The lowest levels of intraocular stray light are found in nuclear cataracts (1.19 log[s]), followed by cortical (1.20 log[s]) and posterior subcapsular cataract (1.23 log[s]). Mixed nuclear and cortical cataracts have a mean of 1.30 log[s] and mixed nuclear, cortical and posterior subcapsular cataract a mean of 1.35 log[s]. A study in patients before lens surgery at the Centro de Oftalmologia Barraquer (218 eyes) did not showed a significant relation between lens grading scores and intraocular stray light values. About 90% had nuclear cataracts with low to medium severity (LOCS score between 0.2 and 0.6) with a mean stray light of 1.46 log[s]. A few cases had cortical cataracts reaching inside the pupillary area or very minor posterior subcapsular cataracts. All studies showed a large variation of intraocular stray light values for similar cataract scores, ranging from 1.00 to 2.00 log[s]. This probably reflects the theoretical expected important discrepancy between the backscattered light (lens grading) and forward scattered light (measured intraocular stray light).
The role of Cl‐ channels in ion transport across the apical and basolateral sides of the mouse retinal pigment epithelium
Authors: SKARPHEDINSDOTTIR S , EYSTEINSSON T , ARNASON S 
Published: August 2014

AbstractPurpose The retinal pigment epithelium (RPE) is important in transporting water from the subretinal space to the choroid of the eye. The water transport across the RPE is supposed to be mediated by Cl‐ channels situated at the basolateral side of the RPE tissue. The purpose of this study was to assess the function of Cl‐ channels at the apical and basolateral side of mouse RPE.Methods RPE of healthy mice (C57BL/6J) was mounted in Ussing chambers. The short‐circuit current (Isc) was measured in μAmp/cm2. The non‐specific Cl‐ channel blocker NPPB (4 mM) was applied to both sides. The CFTR blocker CFTRinh‐172 (0.8 mM) was added to the apical side. The Ca++ dependent Cl‐ channel blocker CaCCinh‐A01 (1.15 mM ) was added to the apical side. Each dose of the blockers was tested for 30 minutes. The results are presented as mean ± SEM, n = 6 in all experiments.Results NPPB (4 mM) on the basolateral side produced no significant change (p = 0.36; 30 min), but 4 mM NPPB on the apical side reversed the Isc (μAmp/cm2) from ‐4,8 ± 5,9 to +19.9 ± 7,3 (p = 0.004) at 5 min which stabilised at +2.9 ± 4,9 (p = 0.03) at 30 min. CFTRinh‐172 (0.8 mM) caused a transient increase, ‐13 ± 3,5 to ‐15,1 ± 3,3 (p = 0.02) at 5 min. CaCCinh‐A01 (1.15 mM) reversed the Isc from ‐10,6 ± 2,1 to +5,5 ± 3,9 (p = 0.0002) at 10 min, which stabilized at ‐0.10 ± 3,0 (p = 0.002) at 30 min.Conclusion The results indicate that Cl‐ channels are situated on the apical side of the RPE and drive a part of the ion transport across the mouse RPE. The channels may play a lesser role in ion transport across the basolateral side.