bluuebunny/crossref_metadata_2025_split huggingface dataset:
Proteomic approach to new drugable targets of retinal neovascularization
Authors: Vähätupa Maria 
Published: December 2019

AbstractRetinal neovascular diseases such as retinopathy of prematurity (ROP), proliferative diabetic retinopathy (PDR) and retinal vein occlusion (RVO) are major causes of visual impairment in western countries. Oxygen‐induced retinopathy (OIR) model is widely used model for studying these retinopathies. The purpose of our study was to characterize changes in protein levels during OIR model using by a recently developed technique, sequential window acquisition of all theoretical mass spectra (SWATH‐MS) proteomics. Samples from normoxic and OIR animals were collected in three time points; P13, P17 and P42 and analyzed with SWATH‐MS. Immunoblotting and immunohistochemistry from mouse and human PDR samples was used to confirm these results and address their relevance for human neovascular retinopathies. We performed the most extensive proteomic profiling of OIR to date and quantified almost 3000 unique proteins and their expression levels in control and OIR retinas. The methodology used in the study allowed also temporal profiling of OIR proteome. The most prominent group of proteins induced at the early hypoxic phase of OIR were crystallins, while angiogenesis related proteins such as Filamin A and B, Annexin 2 and Myosin 9 were upregulated at the peak of neovascularization. In addition, the upstream regulator analysis identified potentially upregulated enhancers of angiogenesis, among them TGF‐β1. As retinal neovascularization regresses later in OIR, majority of the changes seen in protein expression levels returned to normal at P42, but there was still evidence suggesting that proteins involved in neurotransmission stayed at reduced levels.
Diagnostic and postoperative evaluation: application of new imaging modalities
Authors: Papastefanou Vasilios 
Published: December 2019

AbstractThe diagnosis of epiretinal membranes is clinical following a thorough history and fundus assessment. This lecture focuses however on additional imaging modalities currently available to facilitate the diagnostic and postoperative evaluation. Multicolour fundus imaging or confocal infrared imaging have provided superior ERM detection in comparison to fundus photography in mild cases. Diagnostic evaluation with OCT allows the estimation of retinal deformity due to the membrane, determines the involvement of the fovea and, with en‐face OCT, allows for the estimation of the membrane extent and dynamic development. High resolution OCT allows for the classification of epiretinal membranes to conventional or atypical. Specific retinal features have been identified in symptomatic eyes (macropsia). OCT imaging has allowed the determination of the ERM profile for specific categories of patients as patients with uveitis or concurrent diabetic macular oedema. Imaging following ERM peeling allows the estimation of anatomic and functional outcomes. OCT allows the qualitative and quantitative assessment of central macular thickness or individual retinal layers. Additional retinal features, some of which could have prognostic implications such as features of retrograde maculopathy, can be identified. Pre‐ and postoperative macular vascular circulation can be evaluated with the use of OCT‐A and evaluation of retinal oxygen saturation can be evaluated with the use of retinal oximeter. The features of the FAZ postoperatively have been investigated and have been associated with the degree of visual recovery. The impact of artefacts in this modality need to be taken into account.
Introduction and clinical aspects in Usher syndromes
Authors: Millán José M. 
Published: December 2019

AbstractUsher syndrome (USH, OMIM 276900, OMIM 276905, OMIM 605472, ORPHA: 886) is the most prevalent deaf‐blindness of genetic origin. It is a recessive inherited disease characterized by sensorineural hearing loss (HL), visual loss due to retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. Prevalence estimates range from 3.2 to 6.2/100,000. Patients with USH are classified into three clinical subtypes (USH1, USH2, or USH3), based on the severity and progression of hearing impairment and the presence or absence of vestibular dysfunction. Usher syndrome type I (USH1) is the most severe type, characterized by severe to profound congenital sensorineural hearing loss, vestibular dysfunction and prepubertal onset of RP eventually leading to legal blindness. USH2 is characterized by moderate to severe hearing impairment, normal vestibular function and later onset of retinal degeneration. USH3 displays progressive hearing loss, RP and variable vestibular phenotype. In the last years, next generation sequencing (NGS) techniques have revolutionized the world of the molecular genetic diagnosis. NGS has allowed to molecularly characterize a high number of patients, thus permitting to establish some phenotype‐genotype correlations that had been elusive to date.
Neurotrophic keratopathy‐diagnosis and clinical presentations
Authors: Messmer Elisabeth M. 
Published: December 2019

AbstractNeurotrophic keratopathy is defined as a disease related to alterations in corneal nerves leading to impairment in sensory and trophic function with consequent breakdown of the corneal epithelium, affecting health and integrity of the tear film, epithelium and stroma. It can occur with infections, autoimmune disease, after trauma or ocular surgery, with intracranial neoplasia, in systemic disease and genetic syndromes. It is classified in three stages: mild (epithelial changes without epithelial defect), moderate (epithelial defect) and severe (stromal involvement). Clinical hallmark is reduced or absent corneal sensation. Therefore, corneal sensitivity testing is essential in the diagnosis of neurotrophic keratopathy along with patient history, clinical examination and diagnostic tests such as vital stains and, if possible, in vivo confocal microscopy.
Witelo and his works on optics
Authors: Polak Agnieszka 
Published: December 2019

AbstractWitelo (1230‐1314) was the first Polish scholar whose scientific achievements influenced European science. He was a mathematician, physicist, astronomer, philosopher and theologian. Witelo studied liberal arts at the University in Paris, canon low, philosophy and scientist at the Universities at Bologna and Padua. He was interested in ancient philosophy of Aristotle and works of Islamic philosopher Averroes. He also studied the seven volume work of Islamic scientist Hasan Ibn al‐Haytham (Alhazen) translated into Latin. Two of Witelo's works have survived to our times. One is “De natura daemonum and de causa primaria poenitentiae”, second “Perspectiva”, published in 1536. This work had a major impact on the development of European science. It consists of 10 books and it is a treatise on optics. In this treatise Witelo collected the knowledge on mathematics, physics and astrology. In the books III and IV the author presented the outline of the eye structure, the mechanism of image formation in the eye and some aspects of psychology and physiology of vision. He wrote about illusions of perception, flat and parabolic mirrors, the problem of refraction of light on the border of centers of diverse optical density and meteorological optics, including the rainbow phenomenon. He was the first in Europe to present the intromission theory of light. The Universities of Oxford and Cambridge had lectures on optics based on both the theory of Alhazen and Witelo. The theory of Witelo was studied by Leonardo da Vinci, Nicolaus Copernicus and Johannes Kepler who wrote the treatise on optics entitled “Ad Vitelonem paralipomena”.
Roles of LIM homeodomain 2 (Lhx2) in the differentiation of mammalian retinal pigmented epithelium
Authors: Ashery‐Padan Ruth 
Published: December 2019

AbstractNormal vision depends on the retinal pigmented epithelium (RPE), a metabolic cell layer that is vital to the development and function of the adjacent retinal photoreceptors. The aim of this study was to uncover the transcriptional regulatory program and the cis‐regulatory elements required for RPE differentiation and maintenance. Lhx2 is a member of LIM homeodomain (LIM‐HD) protein family; it is a key factor for neural differentiation and is known to be required for early morphogenesis and patterning of the vertebrate eye. To discover the roles of Lhx2 in the differentiation of the mammalian RPE, we conducted functional studies in vivo using conditional mutagenesis in mouse, and knockdown in human RPE derived from embryonic stem cells (hES‐RPE). This was combined with global identification of regulatory regions bound by Lhx2 and a genomic characterization of these sites in the course of RPE differentiation. The results place Lhx2 upstream of a complex regulatory network that controls RPE differentiation, morphology and function in mice and humans.
Small apperture‐IOL for cataract surgery in keratoconus
Authors: Moussa Sarah 
Published: December 2019

AbstractDue to advancements in treatment of keratoconus the number of keratoplasty procedures has significantly decreased. This development leads to an increase in the number of patients with a therapeutically stable keratoconus developing a cataract. The selection of the best IOL is still a challenge in these cases. A new option for keratoconus patients with cataract might be the IC‐8 IOL (AcuFocus), a small aperture aspheric monofocal lens that follows the same principle as the KAMRA coneal inlay (AcuFocus).
Question it
Authors: Besinis Dimitrios 
Published: December 2019

AbstractCompliance with medical treatment is one of the most important aspects of every chronic condition. Non‐compliance in glaucoma has been thoroughly investigated and one of the major reasons is patient education. It is true that we are treating an “asymptomatic” disease with medication that potentially cause immediate side effects. Trying to deal with compliance and succeed in the treatment of glaucoma, we should be able to educate our patients about the condition and the importance of IOP control. There are certain questions that can be discussed in every consultation in order to facilitate patient education. Patient forums are also very helpful in the understanding of glaucoma. In this talk I will present certain questions that should be discussed in every consultation and I will also underline the importance of patient forums.
Immunglobulin depositions in different organs in monoclonal gammopathy
Authors: Garderet Laurent 
Published: December 2019

AbstractMonoclonal immunoglobulins (heavy and/or light chain) can deposit in various organs. The most prominent targeted organs are the kidney, the nerves, the heart, the liver, the gastrointestinal tract but it could also involve the eyes, the skin and it can interact with the hemostasis proteins. This is at the origin of a new concept called monoclonal gammopathy of clinical significance (MGCS). It is challenging to diagnose and even though the B cell clone may be small, it may be important, in some circumstances, to initiate a hematological treatment.
Role of Rho kinase pathway in diabetic retinopathy: from a diabetic rat model to human eye pathology
Authors: Rothschild Pierre‐Raphael 
Published: December 2019

AbstractDiabetic macular oedema is the main cause of visual loss in diabetic retinopathy, particularly in type 2 diabetic patients. The pathogenic mechanisms are not fully elucidated. Rho/Rock1 pathway is activated in diabetes and is responsible for cellular contraction. ROCK1 activation induces actin cytoskeleton remodeling. We hypothesized that Rho/Rock1 diabetes‐induced activation could contribute to cytoskeleton remodelling especially in retinal vessels subsequently altering retinal perfusion.MethodsWe used 12 months old Goto‐Kakizaki (GK) type 2 diabetic rats. Rho/Rhock1 pathway activation effects on retinal vasculature was analysed and ROCK inhibition by Fasudil administered into the vitreous was tested in rats in vivo on vascular perfusion.ResultsIn diabetic rats, activation of ROCK‐1 induces focal vascular constrictions, endoluminal blebbing and subsequent retinal hypoxia. Intraocular injection of fasudil, significantly reduces retinal hypoxia. Diabetes‐induced cell blebbing may contribute to ischemic maculopathy and represent an intervention target.
Agonistic autoantibodies in ocular and systemic disease
Authors: Kunze Rudolf 
Published: December 2019

AbstractAgonistic autoantibodies activate G‐protein coupled receptors (GPCRs) by binding to extracellular loop1 or 2. This mechanism was observed for ß1‐adrenoceptors (AR), the α1‐AR and others. They are pathophysiologically organ‐specific and may be disease‐associated or exacerbating, e.g. in dilated cardiomyopathy (DCM), refractory hypertension or vascular Alzheimer's disease. Additionally, these receptors, in particular ß2‐AR, are located on ocular structures (e.g. ciliary body, trabecular meshwork). As main targets of intraocular pressure (IOP) maintenance might be regulated via ß2‐AR, targets of this AR are in the spotlight of glaucoma research.
AI opportunities and challenges
Authors: Schmetterer Leopold 
Published: December 2019

AbstractClassical approaches to extract information from medical images include semantic features, defined by human experts, and agonistic features, defined by equations. The concept of machine learning approaches is to use agonistic features, but not based on mathematical description or modeling, but by a black box approach. Principal steps in establishing deep learning based approaches include training of a convolutional neuronal network based on a large dataset, using clinical diagnosis is the gold standard, testing performance in a validation dataset and refining the convolutional neuronal network by adding longitudinal data. In diseases such as diabetic retinopathy the diagnostic performance of such convolutional neural networks is at least as good as the performance of human graders. Up to now artificial intelligence approaches are, however, narrow. They may be superior to humans in performing one task, but they do not address factors that are important for treatment decisions. The present talk will summarize opportunities and challenges in implementing artificial intelligence in healthcare and discuss issues related to reimbursement, liability and patient acceptance.
Genetic landscape of Usher syndromes
Authors: Roux Anne‐Francoise 
Published: December 2019

AbstractUsher syndrome (USH) refers to recessively inherited disorders that associate hearing loss (HL) and retinitis pigmentosa (RP). Three clinical subtypes are defined with respect to the degree of HL, the age of RP onset and the occurrence of vestibular areflexia. Ten genes, that when mutated lead the development of the disease, have been identified: six (MYO7A, USH1C, CDH23, PCDH15, USH1G and CIB2) are involved in Usher type 1, the most disabling form, three (USH2A, ADGRV1 (GPR98) and WHRN) in Usher type 2, the most frequent form, and one, CLRN1, in Usher type 3. For many years, molecular diagnosis of Usher syndrome was laborious as many of these genes consist of numerous exons (e.g. 49 for MYO7A and 72 for USH2A, the most frequently involved genes). In the last years, implementation of MPS (Massively parallel sequencing) in diagnosis laboratories permits simultaneous sequencing of all the USH genes, thus making molecular studies of Usher patients much easier and faster. Yet, additional tools to search for hidden mutations or to classify the numerous variants of unknown clinical significance are needed in order to offer a proper comprehensive diagnosis. When gene panels include additional genes mimicking USH syndrome, it becomes possible to address subtle differential diagnoses. However, since several USH genes are involved in non‐syndromic HL as well, they can now be screened in patients presenting with apparent non‐syndromic form. Then, the challenge is to provide the most accurate genetic counselling as whether a child carrying two USH1 pathogenic variants will develop Usher syndrome or not. Finally, elucidating the molecular causes of Usher syndrome remains the essential step to build patient cohorts and to develop therapeutic approaches.
Current and future gene‐based therapies for Usher syndromes
Authors: Kalatzis Vasiliki 
Published: December 2019

AbstractInherited retinal dystrophies are a group of genetically and clinically heterogeneous disorders characterized by photoreceptor degeneration. One common example is retinitis pigmentosa (RP), which is characterized by impaired night vision and progressively decreasing peripheral vision. Moreover, RP can be present as either an isolated visual defect or in association with extra ocular symptoms. The most common syndromic form is Usher syndrome, which is characterized by RP associated with neurosensory deafness of varying severity. The difficulty of this double handicap demands the development of novel therapies. The advantage of the Usher syndrome group is that each disease is monogenic thus lending themselves to gene‐based therapies. The caveat is that the most common forms are due to mutations in large genes, thus rendering gene replacement challenging. This talk will present an overview of current gene‐based therapies for Usher syndrome as a whole and will concentrate on novel genome‐editing advances for the most prevalent causative gene, USH2A.
Photocoagulation of Telangiectatic capillaries using Navigated Laser
Authors: Pedinielli Alexandre 
Published: December 2019

AbstractTargeting macular telangiectatic capillaries for laser photocoagulation can be challenging. The aim of this talk is to present laser photocoagulation using a Navigated laser. The first part of the presentation will discuss the modalities of treatment and the second part will talk about the short and the long terms effects in patients with macular edema.
Assessing loss of colour vision in patients with clinical disorders
Authors: Barbur John L. , Rauscher Franziska G. 
Published: December 2019

AbstractConventional colour assessment (CA) tests rarely isolate the use of Red/Green (RG) colour signals. The successful completion of a visual task cannot therefore be attributed entirely to the use of RG signals, even in normal trichromats. A good example is the Farnsworth D15 test; when no errors are accepted, 6.3% of normal trichromats fail and 50% of deutans and 41% of protans pass. The use of Yellow/Blue (YB) colour signals as well as rod and cone mediated luminance signals contributes significantly to the outcome of the test.Patients with diseases of the retina and systemic diseases that affect colour vision vary in the severity of RG and YB loss, from almost normal responses to complete loss of colour vision. These patients also often exhibit reduced rod and cone mediated luminance contrast sensitivity. When acquired loss, as a result of disease, adds to congenital RG deficiency, CA becomes even more challenging. When taken together, these factors account for the large variability and inconsistency of outcome in conventional CA tests.The recent development of sensitive and specific tests for assessment of RG and YB deficiencies and the establishment of reliable, normal‐age limits have transformed the effectiveness of CA as a clinical tool in the detection and monitoring of diseases such as diabetes, age‐related macular degeneration, glaucoma and a range of other degenerative diseases of the photoreceptors, neural retina and the RPE that often manifest first through a reduction in YB and RG chromatic sensitivity. The latter can range from thresholds that are just above normal age limits to complete loss of colour vision, even when high contrast acuity and other visual functions remain largely unaffected. The loss of colour vision often varies over the retina and in some patients, the loss can be asymmetric and no longer follows the rules of RG and YB chromatic opponency. Such findings have important implications on the processing of chromatic signals.
Assessing the severity of colour vision loss – implications for occupational environments
Authors: Barbur John L. , Rodriguez‐Carmona Marisa , Evans Benjamin 
Published: December 2019

AbstractColour is often used in safety‐critical environments to code and signal information. Colour is also used to enhance target ‘conspicuity’ and visual performance in ‘grouping’, segmentation and pop‐out tasks. Colour vision (CV) is not a key requirement in everyday life, but in some safety‐critical jobs, it can be a matter of life and death. The absence of normally functioning chromatic mechanisms leads to reduced chromatic sensitivity and also to changes in the perceived colour of objects. CV is needed in some occupations, but the majority of subjects with congenital colour deficiency (CCD) retain some red / green (RG) CV. When the latter is combined with normal, yellow / blue (YB) colour signals, many CCD subjects are able to carry out suprathreshold, colour‐related tasks as well as normal trichromats. Since severity of loss in congenital deficiency extends from almost normal to complete absence of CV, it is important to determine accurately severity of CV loss. Empirical studies carried out in some occupations established the degree of CV loss that can be classed as ‘safe’. This led to the establishment of minimum requirements that can be enforced. In addition to safety, the overall aim is to ensure that all subjects with anomalous trichromatic colour vision who can perform the safety‐critical, colour tasks in a given job as well as normal trichromats pass and do not end up being discriminated against unfairly on the basis of their CCD. Until very recently, it has not been possible to achieve this aim, simply because many existing CV tests lack sensitivity and / or specificity and also fail to quantify reliably the severity of CV loss. Improved understanding of CV and the recent development of sensitive and specific CV tests have transformed traditional colour assessment (Br Med Bull. 2017;122 (1):51–77). Results will be presented to show how a single colour assessment test can be used to establish the applicant’s class of CV and to quantify the severity of loss.
Update on epiretinal membranes
Authors: Tranos Paris 
Published: December 2019

AbstractEpiretinal membrane (ERM) is a relatively common macular disorder causing decreased and/or distorted central vision. The prevalence of ERMs is reported at between 3.5% and 6.9%. Since the introduction of vitrectomy for the management of ERM, increasingly successful visual outcomes have been reported in numerous studies. However, some cases show poor visual recovery even after complete ERM removal and several factors (including preoperative duration of symptoms, cystoid macular oedema and preoperative visual acuity) have been suggested as prognostic characteristics affecting the postoperative visual acuity. With the introduction of spectral domain optical coherence tomography (SD‐OCT), several features of the preretinal and intraretinal microanatomy have been correlated with the postoperative visual recovery following ERM peeling. Further, it has facilitated detailed visualization of the membranes and their relationship to the retinal surface. The type of ERM‐macula adhesion has been shown to play a role in different aspects of ERM surgery including surgical difficulty. The technological advances in vitreoretinal surgery simplified the procedure of ERM removal and improved outcomes. However, several controversial issues including staining and peeling of the internal limiting membrane (ILM) requires further evaluation.