bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mitfmi/+ as a new mouse model of cone dystrophy
Authors: Llorca Andrea Garcia , Ólafsson Knútur Haukstein , Sigurdsson Arnór Thorri , Eysteinsson Thor 
Published: December 2022

AbstractPurpose: Mutations in the Mitf gene can lead to hypopigmentation, microphthalmia, retinal degeneration, deafness and blindness1. We have previously shown that RPE function and structure is affected in mice with various mutations in the Mitf gene, which is expressed specifically in the RPE, resulting in some cases in retinal degeneration2. The current study is the first of its kind to analyse visual and retinal function in Mitfmi/+ mice.Methods: Mitfmi/+ and C5BL/6 J (as control) mice were used in this study. All mice were 1‐ and 3‐months old. Electroretinography (ERG) was performed under both dark‐ and light‐adapted conditions, along with fundus photography from anaesthetised mice. The ERG dark‐adapted a‐, b‐ and c‐waves were analysed. Light‐adapted b‐wave amplitude was analysed. Fundus photography was performed to visualize and compare fundus images from wild type and Mitfmi/+ mice.Results: Light‐adapted a‐wave amplitude was significant lower in 3‐month‐old mutants (7.34 ± 1.34 μV, 6.72 ± 1.19 μV, 8.58 ± 1.03 μV; p < 0.05) compared to wild type mice at 3, 5 and 7 cd*sec/m2 respectively. Light‐adapted b‐wave amplitude was also significantly reduced in 3‐month‐old mutants (22.13 ± 0.95 μV, 35.09 ± 2.72 μV, 57.715 ± 5.17 μV, 66.16 ± 4.48 μV, 85.87 ± 4.27 μV; p < 0.05) compared to control animals at all luminance tested. Interestingly, ERG c‐wave amplitude was significantly lower in 1‐month‐old Mitfmi/+ (150.80 ± 11.91 μV; p < 0.05) compared to control mice at 10 cd*sec/m2 light intensity. Progressive hyper‐ and hypopigmentation areas were found in the fundi from the mutants.Conclusions: Retinal function was greatly affected in Mitfmi/+ mutant mice. Significantly lower c‐wave response and hypopigmentation provide evidence for severe RPE pigmentation and likely dysfunction as well in the mutants at 1‐month‐old. Furthermore, lower light‐adapted a‐ and b‐ wave responses indicates selective cone‐dystrophy in this heterozygous mutation in the Mitf gene.References1 Steingrímsson E et al. Annu Rev Genet, 2004; 38:365–411.2 García‐Llorca A et al. Sci Rep, 2019; 28; 9(1):15386.
Pupillary light responses after uncomplicated cataract surgery
Authors: Ollero Juan Antonio Miralles De Imperial , López‐Alacid Alberto , Franco Pedro Esteban Quilez , Perez Maria Paz Villegas 
Published: December 2022

AbstractPurpose: To study the effect of standard cataract surgery in the static and dynamic pupillary light responses.Methods: An observational prospective study was carried out in patients scheduled for cataract surgery. Exclusion criteria were previous ocular surgeries or diseases or intraoperative complications. Cataract surgery was done using phacoemulsification and intrasaccular monofocal intraocular lens implantation. Monocular infrared dynamic pupillometry was performed using white light (Corneal Analyser CA‐800, Topcon) just before surgery (same day), and at 1 week and 1 month after surgery. Pupil diameter was analysed under scotopic (SPD) and photopic (PPD) conditions, and latency to constriction (LC), latency to plateau (LP) and duration of constriction (DC) were also analysed. Statistical analysis was carried out with One Way ANOVA for paired data.Results: Twenty‐seven eyes from 27 patients (10 males and 17 females) were included. The mean age was 69.5 ± 9 years. Preoperative SPD and PPD values were 5.21 ± 1.1 mm and 2.78 ± 0.8 mm and decreased significantly by 1 week and 1 month after surgery (p = 0.0002 and p = 0.012, respectively). Preoperative LC, LP and DC values were 2.52 ± 0.09 s, 4.84 ± 0.35 s, and 10.9 ± 1.71 s and these values did not change significantly after surgery.Conclusions: Cataract surgery decreases the pupillary diameter both in photopic and scotopic conditions but does not modify the pupillary responses to light.
From difficult to general ‐ a new approach to the ROP neovascularization system
Authors: Kovalevskaya Maria , Pererva Oxana 
Published: December 2022

AbstractPurpose: to develop criteria for quantitative analysis of the treatment result of plus‐disease in ROP.Methods: 3126 RetCam images of ROP 448(896 eyes) were divided into 5 groups 1‐I stage 312(624 eyes), 2‐II stage 96(192 eyes), 3‐III stage 17(34 eyes), 4‐posterior aggressive ROP 23(46 eyes), 5‐retinal immaturity 60(120 eyes). Images of 16 patients who underwent laser coagulation due to the presence of a plus‐disease were automatically modelled on the “Key to Diagnosis I" platform. The fractal dimension (Df) and complexity of vascular system(CVS) of wide‐field images were analysed. CVS was 1 (A) for immature network, 2 (B) normal vascular system, 3 (C) neovascularization.Results: The efficiency of the module for automatic modelling of wide‐field retinal images has been proven on two RetCam bases. Statistically significant differences were obtained in the plus‐disease before and after the treatment. Df before treatment 1.426 ± 0.009, after 1.395 ± 0.01, CVS before 2.5 ± 0.16, after 2.1 ± 0.1. Any calculations and measurements (including the thickness of the retina) cannot reflect all the features of the development of the young neovascular net, so we propose a register of CVS. Along with the Df, this general indicator brings it closer to the stage of the ROP process [1].Conclusions: Df and CVS ‐ general criteria for selective choice of plus disease treatment. But the current estimation of the specified parameters is based on the configuration of the wide‐field images.Acknowledgment: to Rascheskov A. PhD and the head of “Children's Republican Clinical Hospital of Tatarstan” Zaitdinov A.References1. Pererva O, Kovalevskaya M. Approaches to the accuracy in ROP diagnosis. Investigative Ophthalmology&Visual Science 62.8(2021):3245–3245.
Influence of scan direction on subfoveal choroidal vascularity index using optical coherence tomography
Authors: Kim Yung‐Hwi , Jin Hyung‐Nam , Kim Hyun‐Ji , Lee Jong‐Hoon , Ji Yong‐Sok 
Published: December 2022

AbstractPurpose: To investigate the influence of scan direction on subfoveal choroidal vascularity index (CVI) measurements using spectral‐domain optical coherence tomography (SD‐OCT) in young healthy subjects.Methods: Seventy‐eight eyes of 41 healthy volunteers were included. Choroidal structures were obtained using SD‐OCT with enhanced depth imaging (EDI) through radial scans at the center of the macula at 30° × 30°. The subfoveal choroidal images in the horizontal (0°), 45°, vertical (90°) and −45° directions were recorded and CVIs were analysed according to their respective directions, using image binarization. Additionally, subfoveal choroidal thickness (SFCT) and axial eye length were measured.Results: The SFCT and subfoveal CVI showed a negative correlation but were only significant for the 45° scan (Pearson's r = −0.262, p = 0.021). The axial eye length and subfoveal CVI had no significant correlation in any direction (all p > 0.05). In the Bland–Altman plot, the subfoveal CVI measurement showed high agreement among the four scan directions. When the SFCT was ≥300 μm, there was no difference in the measured values of the subfoveal CVI among the four scan directions; however, when the SFCT was <300 μm, there was a significant difference in subfoveal CVI among the scan directions (one‐way analysis of variance, F = 4.685, p = 0.004).Conclusions: In subfoveal CVI measurement, it is considered that the horizontal (0°) scan can represent the vertical (90°) or oblique (45°, −45°) scans. However, when the SFCT is thinner, the subfoveal CVI in each direction of radial scan may vary significantly. Hence, caution is required in the interpretation.
Single nucleotide polymorphisms in pigmentation‐related dopachrome tautomerase and melanocortin‐1 receptor genes are associated with wet age‐related macular degeneration in a Finnish cohort
Authors: Koskela Ali , Reinisalo Mika , Helisalmi Seppo , Liukkonen Mikko , Kaarniranta Kai , Urtti Arto , Honkakoski Paavo 
Published: December 2022

AbstractPurpose: Melanin in intracellular organelles, melanosomes, protects the retinal pigment epithelium from ultraviolet radiation and oxidative stress (OS). However, despite the role of OS in the development of age‐related macular degeneration (AMD), the effect of pigmentation‐related genes on the risk of AMD onset is unclear.Methods: Finnish wet AMD patients and control subjects were genotyped for selected pigmentation‐related genes. 26 selected variants for tyrosinase (TYR), tyrosinase‐related protein 1 (TYRP1), dopachrome tautomerase (DCT), melanocortin‐1 receptor (MC1R), microphthalmia‐associated transcription factor (MITF), and orthodenticle homeobox‐2 (OTX2) were analysed using the Sequenom iPlex platform (Sequenom, Hamburg, Germany). Binary logistic regression analyses were performed to find genetic associations.Results: An intronic variant rs1407995 (T > C) of the DCT gene and a two base pair deletion variant rs3212351 (AT > del) in the regulatory region of the MC1R gene were associated with wet AMD in a crude recessive model (OR = 3.250, 95% CI = 1.036–10.195, p = 0.043 and OR = 1.714, 95% CI = 1.004–2.924, p = 0.048, respectively). The age‐ and gender‐adjusted recessive model revealed a stronger association of rs1407995 to AMD (OR = 4.514, 95% CI = 1.300–15.669, p = 0.018), whereas rs3212351 was no longer statistically significant (OR = 1.612, 95% CI = 0.923–2.819, p = 0.093).Conclusions: Several mutations in DCT and MC1R genes are known to associate with the blond or red hair phenotype with increasing ratio of red pro‐oxidant pheomelanin to protective brown eumelanin pigments. Furthermore, MC1R has been linked to the regulation of ocular inflammation, another key event in the pathogenesis of AMD. In conclusion, two polymorphisms in genes regulating melanin production and oxidative balance in pigmented cells were observed in a Finnish cohort evoking interest in their role in AMD onset.
Analysis of RNFL and GCL in patients with multiple sclerosis and fibromyalgia
Authors: Palomar Elisa Viladés , Ciordia Beatriz Cordón , Altabás María José Vicente , Tello Alvaro , Castro‐Roger Luisa , Mallen Victor , Rodrigo Maria Jesus , Perié Manuel Subías , Campo Lorena Arias , Munuera Inés , Satue Maria , Garcia‐Martin Elena 
Published: December 2022

AbstractPurpose: To evaluate the differences in RNFL and GCL between patients with relapsing–remitting multiple sclerosis (RR‐MS), fibromyalgia (FM) and healthy controls, as well as their correlation with disease time and severity.Methods: 94 eyes of RR‐MS patients, 55 eyes of FM patients and 90 eyes of healthy controls were evaluated using the Spectralis OCT Posterior Pole protocol (64‐cell array grid). The thicknesses of both layers were compared for each of the 64 cells between the three groups, the correlation of each layer with the time of the disease was studied, as well as with the EDSS in the case of RR‐MS and with the questionnaires FIQ and EQ‐5D in the case of FM.Results: We observed a significant thinning (p < 0.05) of the GCL in both pathologies compared to healthy subjects, being the damage significantly greater in RR‐MS. Regarding the RNFL, a significant thinning was observed in the RR‐EM but not in the FM. On the other hand, GCL was correlated with the time of evolution in RR‐MS patients, but not in those with FM, and was significantly correlated with a greater impact of FM (FIQ and EQ‐5D), but not with the EDSS in the case of RR‐MS. In addition, it is in the GCL where a high concentration of cells (>50%) which a greater ability to discriminate between healthy and pathological subjects (AUC > 0.5) was found.Conclusions: The GCL damage in FM patients, similar to that in RR‐MS patients, suggests that there is an underlying neurodegenerative process in this pathology. In the absence of other biomarkers, OCT could be postulated as a potential biomarker in FM, since GCL shows significant thinning and correlates with the impact of this disease on quality of life.
In vitro evaluation of sodium hyaluronate protective effect against benzalkonium chloride toxicity
Authors: Pizzano Manuela , Vereertbrugghen Alexia , Galletti Jeremias , del Papa Melina Sol , Passerini María Silvia 
Published: December 2022

AbstractPurpose: To evaluate the protective effect of different concentrations of sodium hyaluronate (SH) on the Benzalkonium chloride (BAK)‐induced toxicity using an in vitro model.Methods: The NAV14 cell line (SV40‐immortalized murine conjunctival epithelium) was used. Cell monolayers were exposed to different combinations of BAK (0.001%; 0.005%; 0.01%) and SH (0.2%; 0.3%; 0.4%) for 15 minutes; then cells were washed, and fresh culture media was added. Cell viability was evaluated after 2 h by resazurin reduction and lactate dehydrogenase (LDH) release. Also, cell migration and proliferation over 24 hours were determined by the scratch wound‐healing assay. Data were analysed by two‐way ANOVA and are shown as mean ± SD of two independent experiment with 4–6 replicates each.Results: BAK induced a concentration‐dependent decrease on cell viability (BAK 0.001%: 91 ± 14%, BAK 0.005%: 45 ± 9% and BAK 0.01%: 22 ± 10% of control cells, p < 0.001) and an increase in LDH release (no BAK:0.22 ± 0.02, BAK 0.001%: 0.31 ± 0.02, BAK 0.005%: 1.14 ± 0.05 and BAK 0.01%: 1.21 ± 0.05, p < 0.001). Conversely, SH neutralized these effects also in a concentration‐dependent manner (p < 0.001). In the presence of SH 0.4% (highest effect), cell viability was BAK 0.001%: 104 ± 22%, BAK 0.005%: 109 ± 9% and BAK 0.01%: 75 ± 13% of control cells (p < 0.001 for BAK 0.005–0.01%) while LDH release was no BAK: 0.24 ± 0.03, BAK 0.001%: 0.26 ± 0.01, BAK 0.005%: 0.37 ± 0.02 and BAK 0.01%: 0.49 ± 0.22, (vs. no SH: p < 0.001 for BAK 0.005–0.01%). BAK also reduced wound closure in vitro (after 24 h, no BAK: 76 ± 14%, BAK 0.001%: 42 ± 12%, BAK 0.005%: 17 ± 16% and BAK 0.01%: 0.0% wound closure, p < 0.001 for all BAK). Conversely, SH neutralized this effect in a concentration‐dependent fashion (p < 0.001). In the presence of SH 0.4% (highest effect), wound closure at 24 h was: no BAK: 81 ± 15%, BAK 0.001%: 58 ± 6%, BAK 0.005%: 63 ± 10%, BAK 0.01%: 60 ± 8% (vs no SH: p < 0.001 for BAK 0.005–0.01%).Conclusions: Sodium hyaluronate neutralized BAK toxicity on conjunctival epithelial cells in a concentration‐dependent manner. SH 0.4% was even protective at the highest preservative concentrations. These findings support the use of SH to mitigate BAK toxicity in long‐term antiglaucomatous treatment, although more studies are needed.
Case report of a large, right, temporal arteriovenous malformation in the brain manifested by a progressive visual field defect
Authors: Hall Caterina , Marinescu Anca 
Published: December 2022

AbstractPurpose: Emphasizing the importance of regular vision screening with visual fields and rapid MRI investigations where a field defect is unexplained. A 44 yo patient with a history of headache and incipient development of hemianopia gradually noticed bumping into things on the left‐hand side. In the last 6 months she also described 2 clear episodes of 5 min absence seizures, when she was staring into space. She has a history of iron deficiency being treated. Visual acuity was 6/6 corrected, right eye and 6/6‐2, corrected left eye. Normal pupillary reflexes. Visual fields showed gross left homonymous hemianopia. Optic discs showed no palor or cupping.Methods: Brain MRI showed a complex right temporal arteriovenous malformation (AVM) predominately supplied from the middle cerebral artery. There is a variceal dilation. There was some gliosis in the right temporal lobe suggesting previous bleed.Results: Urgent neurosurgeon assessment and catheter angiogram found a complex AVM which will likely be treated with gamma knife or embolization given patient age and previous evidence of bleed.Conclusions: This interesting case illustrates the importance of urgent imaging when faced with an abnormal visual field defect with no other underlying pathology.References1. M. J. Kupersmith, M. E. Vargas, A. Yashar, M. Madrid, K. Nelson, A. Seton, A. Berenstein Occipital arteriovenous malformations Visual disturbances and presentation. 1996. DOI: https://doi.org/10.1212/WNL.46.4.9532. Homonymous hemianopia: challenges and solutions. Clin Ophthalmol. 2014; 8: 1919–1927. Published online 2014 Sep 22. doi: 10.2147/OPTH.S594523. Nisha S. Dhawlikar and Yosbelkys Martin Paez. Man presents with visual field changes over 1 year https://www.healio.com/news/ophthalmology/20210827/man-presents-with-visual-field-changes-over-1-year
iOCT‐assisted DSAEK tamponade for spontaneous corneal perforation with secondary bleb formation in pellucid marginal degeneration
Authors: Reinhold Aja , Scholl Hendrik , Gkatzioufas Zisis 
Published: December 2022

AbstractPurpose: Intraoperative optical coherence tomography (iOCT) was initially used in vitreoretinal surgery. Nowadays, iOCT is also used in anterior segment surgery, providing increased precision and therefore more safety in complex anterior segment procedures, such as in corneal transplantation.Methods: Our case reports on a 50‐year‐old patient who suffered a spontaneous corneal perforation with secondary bleb formation on the ground of advanced pellucid marginal degeneration (PMD).Results: After initial repair with histoacryl glue, the corneal perforation was successfully managed by iOCT‐guided DSAEK tamponade. The secondary bleb resolved spontaneously.Conclusion: Intraoperative optical coherence tomography is a good additional tool in complex anterior segment surgery to reach a higher precision and to provide more safety.
Interplay between autophagy and mitochondrial metabolism in retinal pigment epithelium cells obtained by differentiation of induced pluripotent stem cells generated from wet AMD patients
Authors: Blasiak Janusz , Ali Koskela , Tomi Tuomainen , Heli Skottman , Pasi Tavi , Kai Kaarniranta 
Published: December 2022

AbstractPurpose: Age‐related macular degeneration (AMD) presents a limited potential of experimental studies on the target tissue from AMD patients. Therefore, it is important to have a reliable experimental model to study AMD pathogenesis. We differentiated induced pluripotent stem cells (PSCs) derived from individuals suffering from wet AMD into retinal pigment epithelium (RPE) cells (iPSCs‐RPE). Impaired autophagy and mitochondrial metabolism are recognized factors of AMD pathogenesis, but the underlined mechanism is not fully known. The aim of this study was to assess mitochondrial metabolism in dependence on autophagy in iPSCs‐RPE derived from wet AMD patients and non‐AMD controls.Methods: Bafilomycin a1 (Baf1) and MG‐132 were used as autophagy inhibitor and inducer, respectively. Expression of autophagy markers were evaluated by RT‐PCR and western blotting. The Seahorse FX test was used to evaluate mitochondrial metabolism with carbonyl cyanide‐p trifluoromethoxyphenylhydrazone (FCCP) to uncouple oxidative respiration.Results: We observed differences between the expression of the autophagy‐related genes MAP1LC3B (Microtubule Associated Protein 1 Light Chain 3 Beta) and SQSTM1 (Sequestosome 1) in RPE cells derived from wet AMD and non‐AMD controls. In addition, differences in the expression of the HSP701A (Heat Shock Protein Family A (Hsp70) Member 1A, chaperone) gene were also observed. Autophagy differentially affected mitochondrial metabolism as evaluated by basal and maximal respiration, ATP production, spare capacity and proton link.Conclusions: Autophagy differentially influences mitochondrial metabolism in iPSCs‐RPE derived from wet AMD and non‐AMD eyes.Acknowledgement: This work was supported by National Science Centre, Poland grant number 2017/27/B/NZ3/00872.
Role of optical coherence tomography in diagnosis of Alzheimer's disease
Authors: Castro‐Roger Luisa , Mallen Victor , Palomar Elisa Viladés , Ciordia Beatriz Cordón , Altabás María José Vicente , Tello Alvaro , Rodrigo Maria Jesus , Perié Manuel Subías , Campo Lorena Arias , Munuera Inés , Garcia‐Martin Elena 
Published: December 2022

AbstractPurpose: To evaluate changes in visual function and anatomical structures in the neuroretina of patients diagnosed with Alzheimer's disease (AD) in comparison with healthy controls.Methods: A total of 25 eyes of 13 AD patients and 80 eyes of 40 healthy subjects were analysed. Best corrected visual acuity (BCVA) was assessed in different contrast situations (100%, 2.5%, 1.25%) with ETDRS chart (Early Treatment Diabetic Retinopathy Study). Also, retinal nerve fibre layer (RNFL) and ganglion cell layer (GCL) thickness were analysed using Spectralis and Triton optical coherence tomography (OCT), globally and by sectors, both in peripapillary and macular area.Results: A statistically significant decrease was found in BCVA in AD patients in comparison with controls (p < 0.001), specifically in 100% and 1.25% contrast charts. Regarding structural analysis, a significant reduction in retinal thickness was found in AD patients in comparison with controls. Global thickness was found to be significantly thinner in peripapillary retina in Triton OCT (p < 0.001). In a similar way, macular GCL, both in Triton and Spectralis OCT, showed a significant thinning (p < 0.001) in global and sectorial analysis. RNFL showed a significant tendency towards thinning, but specifically in infero‐temporal sector of macular area in Spectralis OCT (p < 0.001).Conclusions: The neurodegeneration that AD produces to the brain affects the retina in a parallel way, and that can be objectified by measuring BCVA parameters and thickness measurements in OCT. Compared to healthy controls, AD has a significant thinning in several neuroretinal layers, which can be considered a potential diagnostic tool considering that OCT is a quick, reproducible, non‐invasive test.
Acute glaucoma secondary to posterior scleritis uveal effusion syndrome
Authors: Abellán Maria Victoria Navarro , Perea Juan Antonio Sánchez , Menargues Manuel Almarcha , López Carmen MIquel , Velázquez Elena Rubio , Molina Celia Gómez , Medina José Javier García 
Published: December 2022

AbstractPurpose: To describe an observational case of closed‐angle glaucoma secondary to uveal effusion syndrome after a first episode of posterior scleritis.Methods: Morales Meseguer University Hospital. Ophthalmology service. Uveitis section.Results: A 76‐year‐old woman presented to the emergency department with a red, painful right eye (RO) and decreased visual acuity (VA). Initial VA was light perception and intraocular pressure was 40 mmHg, presenting a narrowed chamber and corticonuclear cataract. The fundus was not assessable due to media opacity. Optical coherence tomography showed choroidal folds in the left eye, and the OD was unapproachable. B‐mode ocular ultrasound showed scleral thickening of 2 mm in both eyes and a superior temporal hematic choroidal detachment in the left eye. She was diagnosed with acute glaucoma secondary to uveal effusion after the first outbreak of posterior scleritis. In the emergency department she was treated with intravenous mannitol, acetazolamide orally and hypotensive eye drops. Acute angle‐closure glaucoma and choroidal detachment remitted under systemic steroid treatment, cycloplegic eye drops and topical hypotensive agents. After screening for pathologies associated with posterior scleritis, idiopathic origin of the condition was concluded.Conclusions: Patients with posterior scleritis may develop uveal effusion syndrome, which can lead to secondary angle‐closure glaucoma. A screening for pathologies associated with posterior scleritis (Wegener's, rheumatoid arthritis, herpes zoster, tumours, porphyria, post‐surgical or pharmacological causes) should be performed, although most cases are idiopathic. Treatment differs from glaucoma due to pupillary block, being necessary the use of systemic corticosteroids.