bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prevalence of Risk Variants for Glaucoma in the MYOC gene in the General Population
Authors: Liuska Perttu , Kivelä Tero , Turunen Joni 
Published: December 2019

AbstractPurposeTo assess the clinical relevance of myocilin (MYOC) gene variants reported in association with glaucoma in the literature, and to estimate the prevalence of these variants in different populations.MethodsWe reviewed the literature for published MYOC variants in glaucoma patients and estimated their prevalence in the general population using the gnomAD and BRAVO databases. We used several bioinformatics tools and the criteria of the American College of Medical Genetics and Genomics (ACMG) to assess the pathogenicity of the variants. We evaluated the carrier frequency of likely pathogenic and risk variants in gnomAD, including its subpopulations.ResultsWe found 13 reported missense and 5 loss‐of‐function (LOF) variants in MYOC that were both likely pathogenic or risk variants and listed in the gnomAD database. Six likely pathogenic missense variants were p.Gly399Val (c.1196G>T), p.Thr377Met (c.1130C>T), p.Thr353Ile (c.1058C>T), p.Gly326Ser (c.976G>A), p.Gln48His (c.144G>T), and p.Cys25Arg (c.73T>C). They were most prevalent in East and South Asia (frequency, 0.0092 and 0.0081, respectively). The most common missense variants were p.Thr353Ile (0.0091 in East Asia) and p.Gln48His (0.0079 in South Asia). Five LOF variants were p.Gln368Ter (c.1102C>T), p.Arg272Ter (c.814C>T), p.Arg91Ter (c.271C>T), p.Arg46Ter (c.136C>T) and p.Tyr453MetfsTer11 (c.1357delT). We considered these glaucoma risk variants. They were most prevalent in the East Asian and the Finnish population (0.0093 and 0.0033, respectively).ConclusionsPathogenic MYOC variants appear to be population‐associated. Likely pathogenic missense variants seem to be most prevalent in Asia. The glaucoma risk variant p.Gln368Ter is most common in the European population with the highest prevalence in the Finnish population. Our results highlight allelic heterogeneity of MYOC variants in open‐angle glaucoma.
Dose‐dependent density change of lens epithelial cells after in vivo UVR exposure
Authors: Yu Zhaohua , Talebizadeh Nooshin , Söderberg Per 
Published: December 2019

AbstractIntroductionOur research group focuses on the mechanism of ultraviolet radiation (UVR) induced lens damage. Posterior capsule opacification (PCO) is the most common complication for cataract surgery. PCO results from the growth and abnormal proliferation of lens epithelial cells (LECs) on the posterior capsule. Lens epithelium is the first target for toxic factors such as ultraviolet radiation. UVR‐300 nm (UVR‐B) is especially an important risk factor for cataract development. Our previous findings show that exposure to UVR‐B can damage the lens epithelium, affect the expression of proteins, induce apoptosis and lead to cataract formation. Therefore, it is possible to prevent PCO by sufficient dose exposure of ultraviolet radiation to residual lens epithelial cells after cataract surgery.PurposeTo determine the effect of different doses of UVR on the distribution of lens epithelial cells (LECs).MethodsAltogether, 40 Sprague Dawley rats were unilaterally exposed in vivo to 1, 3, 6 and 8 kJ/m2 UVR‐300 nm for 15 min. One week after UVR exposure, exposed and contralateral non‐exposed lenses were removed. One midsagittal section from each lens was stained with DAPI for fluorescence microscopy in order to determine the spatial distribution of LECs.ResultsThe LECs density difference between exposed and contralateral non‐exposed eyes at exposure dose of 1, 3, 6 and 8 kJ/m2 was estimated as a CI (95%), −0.1 ± 2.1, 0.1 ± 3.0, −4.1 ± 1.4 and −2.9 ± 2.7 Cell μm−1 10−2, respectively. Data was fit to a linear model considering the initial density difference at 0. The inclination coefficient was estimated as CI (95%), −0.4 ± 0.1 Cell μm kJ−1 1010.ConclusionUVR‐300 nm induces significant LECs density decrease at exposure dose ≥6 kJ/m2. With fitting to a linear model the evolution of dose‐cell density dependence can be determined.
Migraine headache and high tension glaucoma among adult population living in Armenia: a case‐control study
Authors: Giloyan Aida , Harutyunyan Tsovinar , Hakobyan Varsik , Kirakosyan Lilit , Petrosyan Varduhi 
Published: December 2019

AbstractPurposeGlaucoma is the leading cause of global irreversible blindness and the second leading cause of blindness globally. This study assessed the association between migraine headaches and high tension glaucoma among adult population living in Armenia.MethodsThis case‐control study recruited 145 cases and 250 controls from Optomed Canada Eye Diagnostic Center (OCEDC) in Armenia. Cases were patients with glaucoma, while controls were patients with no glaucoma and no other ocular disorders except refractive errors. A structured interviewer‐administered questionnaire contained socio‐demographic questions, family history of glaucoma and stroke, smoking status, migraine and obstructive sleep apnea. The details on ocular health were retrieved from patients’ medical records. This study used Migraine Screening Questionnaire for assessment of possible migraine and Berlin Questionnaire to assess obstructive sleep apnea.ResultsMean age of cases and controls was 62.8 (SD = 12.6) and 39.5 (SD = 13.5), respectively. Women comprised 64.1% of cases and 69.1% of controls in the sample. About 17.5% of cases and 19.0% of controls were identified having possible migraine. In the adjusted analysis age (OR = 1.15; 95% CI: 1.10; 1.19), having average and lower than average socio‐economic status (OR = 3.45; 95% CI: 1.04; 11.4) and family history of glaucoma (OR = 3.96; 95% CI: 1.56; 10.1) were significantly associated with glaucoma.ConclusionThis study found no statistically significant association between migraine headache and high tension glaucoma. Due to the limited number of cases with normal tension glaucoma in the sample, the study could not assess its associations with migraine. Timely screenings for eye pathologies among those with average/low socio‐economic status could facilitate early detection of eye diseases and help to prevent visual loss.
Comparison of vessel density and retinal nerve fiber layer thickness in patients between both eyes of subjects with clinically unilateral pseudoexfoliation syndrome using optical coherence tomography angiography
Authors: Yang Heon , Young Ryu Jin , Heon Lee Tae 
Published: December 2019

AbstractPurposeThe purpose of the study was to compare vessel density (VD) and retinal nerve fiber layer thickness (RNFLT) between eyes with pseudoexfoliation material (PE+) and fellow unaffected (PE−) eyes of patients using optical coherence tomography angiography (OCTA).MethodsA retrospective analysis of 36 eyes from 18 patients with clinically unilateral pseudoexfoliation syndrome was performed. The circumpapillary (cp) VD and RNFLT were obtained using OCTA and perifoveal, parafoveal VD and RNFLT were also calculated using OCTA. Circumpapillary parameters were obtained from octametric sections: superonasal (SN), nasalsuperior (NS), nasalinferior (NI), inferonasal (IN), inferotemporal (IT), temporalinferior (TI), temporalsuperior (TS), and superotemporal (ST) and perifoveal, parafoveal parameters were obtained in 4 different quadrants: temporal, nasal, inferior, superior.ResultsIn PE+ eyes, the cpVD was significantly lower in all eight sectors (p < 0.05), while the cpRNFLT showed significant reduction in six sectors (p < 0.05): NS, NI, IN, IT, ST and SN). Perifoveal VD was significantly decreased in temporal, inferior quadrant (p < 0.05) and parafoveal VD was significantly lower in only temporal quadrant (p < 0.05) in the PE+ group. While, significant difference was not detected in RNFLT between PE+ and PE− eyes.ConclusionsEyes with clinically unilateral pseudoexfoliation syndrome have low VD and thin RNFLT as compared to fellow unaffected eyes, but not with the all sectors. These changes appear to be associated with pseudoexfoliation material. The roles and mechanisms in pseudoexfoliative material need clarification.
Evolution of AMD drusenoid deposits Protein‐Cellular Type," P": density, structure, volume, complications study
Authors: Gonzalez Corinne , Gonzalez Corinne 
Published: December 2019

AbstractPurposeTo study evolution of AMD drusenoid deposits “P”: density, structure, volume parameters with Morphology‐structural software, complications with OCT, Multimodal exam. Six years follow‐up.Methods234 eyes of 194 patients with AMD drusenoid deposits “P”, Protein‐Cellular Type: Cuticular drusen, Pseudovitellifom AMD, Subretinal drusenoid deposits (SDD), Drusenoid PED "P". Deposits were evaluated by Multimodal exam, OCT (Spectralis spectral domain HRA‐OCT) and Morphology‐Structural software (M‐S software). Multimodal exam, OCT let analyze deposit evolution, itself and its environment. M‐S software let drusenoid deposit contents analyze, discrimination, differentiation, let grading (volume, contours analyze), let measurements: volume (in µm3), density (grey levels of deposits), structure (structural measures, texture parameters), so evaluation, characterization of those “P” deposits evolution. Evaluation, comparison for each eye, each patient, between all studied patients was done every 6 months, during 6 years.ResultsAMD Drusenoid Deposit “P” density, structure evolution was with no much less density, more structure, 2 years cycle evolution with bell‐shaped curve, smooth for density, more prominent for structure; for volume evolution: rather increase volume, 1 year ½ cycle with irregular bell‐shaped curve. Evolution: 45% No complication, rather unchanged, 44% to Neovascular Complication(choriocapillaris change‐pigment epithelium involution: more dense, irregular, inhomogeneous, crumbled‐inflammation‐neovascular signs), 11% to Atrophy (Pigment Epithelium layer granular, irregular, less thick, thinner and thinner to disappear). M‐S Software reliable, relevant for characterization, evolution study of deposit; Density: good criteria to characterize drusenoid deposit and evolution, too for Structure to study contents, modifications, evolution; Volume: interesting criteria for lesion, eye, patient study but no or less according whole studied patientsConclusionEvolution of AMD Drusenoid deposits Protein‐Cellular Type, “P”, contribute to and improve AMD knowledge, its complication understanding and get AMD biomarker feature.
PLGA microspheres loaded with a ROCK inhibitor as an intravitreally injectable drug delivery system for the management of glaucoma
Authors: Mietzner Raphael , Kade Christian , Froemel Franziska , Fuchshofer Rudolf , Wegener Joachim , Breunig Miriam 
Published: December 2019

AbstractPurposePrimary open‐angle glaucoma (POAG) is a chronic, progressive neuropathy of the optic nerve and one of the major causes of blindness worldwide [1]. ROCK inhibitors such as fasudil are a promising class of drugs on the market allowing a causative therapy of POAG. Unfortunately, a major drawback of topically applied fasudil is its high hydrophilicity and consequently low intraocular bioavailability [1]. In addition, short half‐life severely limits its time of action. Therefore, we propose intravitreal injectable fasudil loaded poly(lactide‐co‐glycolide) microspheres (fasudil‐MS) as promising depot formulation increasing the effect, stability and bioavailability of fasudil to a maximum. In different cell‐based assays the biological activity of fasudil‐MS was tested.MethodsFasudil‐MS were prepared by the water‐in‐oil‐in‐water solvent evaporation technique. Manufactured fasudil‐MS were characterized regarding size by laser diffraction, encapsulation efficiency by HPLC and in vitro release. Measurement of biologic activity of released drug was performed in different cell‐based assays. Therefore, preliminary cell studies were established with free fasudil and the glaucomatous factors connective tissue growth factor (CTGF) and transforming growth factor‐β2 (TGF‐β2) to analyze cell contractility and expression of a‐smooth muscle actin (a‐SMA) by qPCR.ResultsFasudil‐MS had a size of 20‐25µm and spherical shape. Fasudil was released in a controlled biphasic releasing profile. In preliminary experiments, fasudil demonstrated its ability to diffuse through the vitreous body and was able to reduce the cell contractility as well as the gene expression of a‐SMA induced by CTGF and TGF‐β2.ConclusionThe proposed formulation could be a promising strategy increasing therapy effectiveness.Reference

Mietzner R, Breunig M. Causative glaucoma treatment: promising targets and delivery systems. Drug Discov Today. 2019.
Influence of strabismus on the motor skills in children
Authors: Hemptinne Coralie , Pellissier Thomas , Ruiz Clément Ramirez , Vanderveken Catherine , Yuksel Demet 
Published: December 2019

AbstractPurposeTogether with anisometropia and organic causes of visual deprivation, strabismus, if not treated before the age of 7 or earlier, depending on studies, leads to amblyopia and loss of binocularity. In this study, we first examined which parameters of strabismus influenced the motor development in children. Second, we assessed to what extent different motor skills were impacted by strabismus.MethodsTo this end, we evaluated the motor skills of 40 children between 3 and 12 years old suffering from strabismus using the Movement Assessment Battery for Children – Second Edition (MABC‐2).ResultsAccording to MABC‐2, 19 children had no motor disability, and 21 had risk of or significant motor disabilities. As for the first question, results at MABC‐2 were significantly lower for children without compared to those with binocularity (p‐value = 0.002), and significantly lower for participants with binocularity but without stereoscopy in comparison with those with stereoscopy (p‐value = 0.099). However, results did not differ significantly according to the type of strabismus, that is infantile, secondary or acquired strabismus. Differences were not significant either according to the angle of deviation. Regarding our second question, binocularity significantly impacted static balance (p‐value = 0.003) and to a smaller extent dynamic balance (p‐value = 0.05). Performance for catching, but not for shooting, was significantly affected by binocularity (p‐value = 0.042).ConclusionsOur study shows that the development of motor skills in children is significantly affected when binocularity and stereoscopy are absent, independently from the type of strabismus. Among the motor skills, static balance and catching are significantly impacted by that absence of binocularity. These results should be confirmed with a larger sample, including older patients, to assess the compensation mechanisms put in place and the actual impact of strabismus on overall motor performance.
Resvega alleviates oxidative stress and inflammasome activation in retinal pigment epithelial cells
Authors: Bhattarai Niina , Korhonen Eveliina , Toppila Maija , Kaarniranta Kai , Kauppinen Anu 
Published: December 2019

AbstractPurposeOxidative stress and inflammation have been shown to associate with the pathogenesis of age‐related macular degeneration. Oxidative stress is known to induce inflammasome activation. The aim of the study was to investigate the effects of the resveratrol‐containing Resvega on the inflammasome activation in retinal pigment epithelial (RPE) cells exposed to oxidative stress.MethodsFor the investigation of intracellular reactive oxygen species (ROS) production and inflammasome activation, ARPE‐19 cells were exposed to hydroquinone or MG‐132 and bafilomycin A1 primed with IL‐1α. Experiments were performed with and without pre‐treatment with Resvega (Laboratoires Théa, France). ROS production was measured using the 2′,7′‐dichlorofluorescin diacetate (DCFDA) probe. Caspase‐1 activity was determined using a specific fluorochrome inhibitor of caspases (FLICA). The amount of secreted IL‐1β and NLRP3 were measured using the enzyme‐linked immunosorbent assay (ELISA) method. Cell viability and cytotoxicity were determined using the thiazolyl blue tetrazolium bromide (MTT) and lactate dehydrogenase (LDH) assays.ResultsHydroquinone induced intracellular ROS production, which was reduced by pre‐treatment with Resvega. However, reduction did not result from increased cytotoxicity or declined cell viability. Inflammasome activation by MG‐132+bafilomycin A1 in IL‐1α ‐primed cells was detected by the activation of caspase‐1 and increased secretion of IL‐1β and NLRP3. All those were reduced by the pre‐treatment with Resvega, which had no impact on the cell viability.ConclusionsOur results suggest that Resvega has potential to alleviate oxidative stress and inflammation in human retinal pigment epithelial cells.
Ahmed glaucoma valve versus Ex‐PRESS glaucoma shunt in the surgical treatment of glaucoma: 2‐year follow up
Authors: Lee Jiyoung , Choi Jin A 
Published: December 2019

AbstractPurposeTo compare the surgical outcomes of Ex‐press glaucoma shunt with Ahmed glaucoma valve in glaucoma patients.MethodsThis study retrospectively reviewed the records of patients who underwent Ahmed valve implantation or EX‐PRESS shunt surgery. Neovascular glaucoma patients were excluded. Primary outcome measure was surgical success, defined as an intraocular pressure between 5 and 21 mmHg and a 20 % intraocular pressure reduction from baseline (with or without glaucoma medications) without glaucoma reoperation. Preoperative and postoperative endothelial cell count was also compared.ResultsIn total, 52 patients (56 eyes) were included (27 Ahmed valve, 29 Ex‐PRESS shunt). 2 years complete success rate (without glaucoma medication) was 84.9% for Ahmed valve, 81.3% for Ex‐PRESS shunt (p = 0.452), and qualified success rate (with/without glaucoma medication) was 95.8% for Ahmed valve, 96.6% for Ex‐PRESS shunt. (p = 0.877) The Ex‐PRESS group had significantly greater reduction of intraocular pressure than Ahmed valve group at post‐op 3, 6 months. (18.3±5.3 mmHg versus 14.2±6.2 mmHg, 15.4±3.9 mmHg versus 13.3±4.4 mmHg, p = 0.001, p = 0.033). The number of glaucoma medication was significantly lower in Ex‐PRESS group than Ahmed valve group throughout the follow up period. At post‐op 2 years, corneal endothelial cell counts were significantly higher in Ex‐PRESS group than Ahmed valve group at post‐op 2 years. (1794.5±403.5 /mm2 versus 2212.2±399.0/mm2, p = 0.010).ConclusionsCompared with Ahmed valve, Ex‐PRESS shunt showed similar success rate and greater intraocular lowering effect until post op 6 months. Ex‐Press shunt also seems to be a safer surgery regarding the risk of endothelial cell loss.
Physiological changes in retinal layers thicknesses measured with swept source optical coherence tomograph
Authors: Velilla Javier Pérez , Vicente Maria José , Palomar Elisa Viladés , Hospital Elvira Orduna , Palomar Amaya Pérez Del , Banzo Jose Cegoñino , Marco Alberto Montolio , Palacián Maria Satué , Martín Elena García , Ciordia Beatriz Cordón 
Published: December 2019

AbstractPurposeTo evaluate the physiological changes of the different layers of the retina measured by the standard protocol and the grid points of the swept source optical coherence tomography (SS‐OCT).MethodsA total of 463 eyes divided into four groups will be analyzed: Group 1 (71 eyes of subjects of 20 and 34 years); Group 2 (65 subjects from 35 to 49 years), Group 3 (with 230 subjects from 50 to 64 years) and Group 4 (97 subjects from 65 to 79 years). Wide protocol of Triton SS‐OCT (Topcon Corporation, Japan) was used to measure thickness of different layers of the retina, retinal nerve fiber layer (RNFL), ganglion cell layer, and choroid.ResultsTransition from group 2 to group 3 showed the most significant thinning of all the retinal layers, especially in the superior‐temporal quadrant of RNFL, ganglion cell and retinal layers (p < 0.001), and temporal sectors in the choroid layer (p < 0.001). A significant RNFL thickening was found in group 2 compared with group 1 in the superior temporal quadrant (p = 0.001), inferior half (p < 0.001) and temporal half (p = 0.001), and also in the choroid layer (p = 0.001).ConclusionThere is a progressive and physiological thinning of all the layers of the retina from the third decade of life.
Corneal crosslinking for therapy‐resistant keratitis with corneal melting; it is never too late!
Authors: Germann Ursula , Gkatzioufas Zisis 
Published: December 2019

AbstractPurposeTo report the use of corneal crosslinking (Dresden protocol) as adjuvant treatment in a patient with advanced therapy‐resistant keratitis complicated with corneal melting.MethodsCase report and literature review.ResultsA 52‐year‐old female patient, who presented with an extended central corneal ulcer and hypopyon, was treated with fortified antibiotic eye drops (Ceftazidin 5% and Moxifloxacin alternating hourly). Corneal cultures were positive for Streptococcus dysgalactiae. On clinical suspicion of fungal co‐infection, treatment was supplemented with Voriconazole eye drops 8 times/day. Two weeks later, Alternaria spp. was detected in corneal cultures. Despite broad‐spectrum therapy, the corneal ulcer progressed and corneal melting occurred. After discussion with the patient we decided to proceed to a corneal crosslinking, before considering therapeutic corneal transplantation. Postoperatively, the corneal melting was reversed and the infection was adequately controlled with formation of corneal scarring.ConclusionCorneal crosslinking was successfully implemented to manage corneal melting and control infection in a patient with advanced therapy‐resistant keratitis. Physicians should not ignore the clinical signs of mycotic co‐infection in their clinical assessment, even in the absence of initial positive cultures, and they should consider corneal crosslinking even in advanced corneal ulceration with melting.
An evaluation of complication rates in patients undergoing the unconventional “standing” phacoemulsification procedure
Authors: Mathews Namita , Ebbs Samuel , Tahhan Mazen 
Published: December 2019

AbstractPurposeA large proportion of the elderly find lying flat for cataract surgery difficult due to mechanical back issues or medical comorbidities. The “standing” phacoemulsification procedure is carried out with the surgeon standing throughout. Consequently, it allows the patient to have their head and neck elevated to a more comfortable position. This study evaluates the rate of intra‐ and post‐operative complications in patients undergoing this technique.MethodsData was collected via the Medisoft database of standing phacoemulsification procedures from January 2012 to October 2018 across two sites in Sandwell and West Birmingham Trust. Complication rates and pre‐ and post‐operative visual acuity were recorded.ResultsSeventy‐five eyes (36 left and 39 right) were included in the study; 60 females and 15 males. The median age of patients was 85 years. There were four recorded intra‐operative complications (5.3%) of which three were recorded with post‐operative complications. Two patients without intra‐operative complications were recorded with a post‐op complication. 55 events had a pre‐ and post‐operative vision recorded of which 74.5% had an improvement in visual acuity, 21.8% remained the same and 3.6% had a deterioration. The rate of posterior capsule rupture was 1.3%.ConclusionOur data shows low level of complication rates and improvement in visual acuity remains high. In comparison to the 2016/17 National audit data our Posterior Capsule rupture rate is similar ‐ 1.4% nationally.[1] In conclusion, standing phacoemulsification can be deemed safe however we would need a higher volume of data and follow up to further assess this.ReferenceDonachie P & Sparrow J (2018): . [online] Royal College of Ophthalmologists. Available at: https://www.nodaudit.org.uk/u/docs/20/avusuryktz/NOD%20Audit%20Annual%20Report%202018.pdf. (Accessed 11 Apr 2019).