bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autoantibodies and eye movement disorders
Authors: Robert Matthieu 
Published: December 2019

AbstractIntroductionNew auto‐antibodies seem to be discovered every month and the field of eye movement disorders is fully part of the game: anti‐GAD, GM1, GQ1b, Hu, Ri, etc. What are their specificity? their practical use at the bedside? where and how to ask for their dosage? what to they tell us of their associated conditions?ObjectiveTo answer these questions in a synthetic way.MethodsLiterature review using Pubmed and Google Scholar; chosen clinical cases.ResultsVarious oculomotor presentations should prompt auto‐antibodies dosage: oculogyric crises associated with tics or chorea; progressive saccadic intrusions with associated ataxia, typically evolving into opsoclonus‐myoclonus syndrome; acquired neurological nystagmus with no obvious explanation, and non‐compressive unexplained ophthalmoparesis, especially when associated with unremarkable MRI ‐ or with MRI showing mild signs of encephalitis. The targets of these antibodies can be: the central nervous system, the peripheral nervous system, the neuromuscular junction or the extraocular muscles. Relevant auto‐antibodies can be classified into: antibodies directed against intracellular neuronal proteins, responsible for paraneoplastic neurological syndromes (Hu, Yo, Ri, CV2, amphiphysin, Ma1, Ma2) and antibodies directed against neural surface or synaptic antigens, responsible for autoimmune encephalitis syndromes, most frequent in children (AMPA, CASPR2, GABAR, GAD, GD1a, GD1b, GM1, GQ1b, GT1a, LGI1, NMDA).ConclusionsAuto‐antibodies are often the clue of ‘impossible’ oculomotor cases. They should be dosed in chosen and rare situations with specific techniques; the results should be interpreted according to the known specificity of each auto‐antibody.
Sex, gender and hormones in dry eye disease
Authors: Versura Piera 
Published: December 2019

AbstractA variety of sex related differences in the eye have been identified, and many of these have been associated to the effects of sex steroids. Significant sex related differences have been demonstrated in the anterior chamber, iris, ciliary body, lens, vitreous, and retina. In the ocular surface, sex differences have been found in the lacrimal gland, Meibomian gland, cornea, conjunctiva, nasolacrimal duct and tear film, with reference in particular to the anatomy, immunity, pain perception. It is believed that these differences may contribute, at least in part, to the female prevalence of Dry Eye Disease (DED). Not only androgens, estrogens and progestins, but also the hypothalamic‐ pituitary hormones, glucocorticoids, insulin, and thyroid hormones have an influence in the sex related variations. The role of X‐chromosome genes has also been demonstrated. Gender (the person's self‐representation as male or female) can also lead to related differences in DED, including health care utilization, treatment outcomes, impact on the quality of life. Overall, sex, hormones and gender play a key role in the difference of DED prevalence between men and women, and are important variable to be taken into account to validate the scientific research of DED in the future.
Involvement of the PlGF/VEGFR1 pathway in diabetes and type 1 retinal telangiectasia
Authors: Kowalczuk Laura 
Published: December 2019

AbstractAmong all the factors implied in the angiogenic balance, the vascular endothelial growth factors (VEGF) superfamily and their receptors (VEGFR) play a decisive role in microvascular permeabilization, as well as in neovascularization. It is well known that VEGF‐A promotes vascular permeability through VEGFR‐1 binding and activates cell proliferation through VEGFR‐2 binding. However, its homologous, placental growth factor (PlGF), specifically binds to VEGFR‐1 but not to VEGFR‐2. A number of studies have examined the role of PlGF in vascular retinal diseases and suggested that the PlGF‐ VEGFR‐1 pathway is involved in microvascular permeabilization and in telangiectasia. This presentation will focus on its role in diabetic retinopathy and in macular telangiectasia type 1.
Glaucoma genetics: Can we predict who will get glaucoma, and response to treatment?
Authors: Hammond Chris 
Published: December 2019

AbstractFew environmental risk factors are known for glaucoma, in contrast to other common age‐related eye diseases such as AMD and cataract. With the advent of genome‐wide association studies (GWAS), we are increasingly understanding the importance of genetic factors influencing risk of glaucoma. This presentation will discuss results from the largest GWAS of intraocular pressure from the UK Biobank study of over 100 000 people, showing that ~700 common genetic risk variants can predict risk of glaucoma, with an AUC (area under the curve) for high‐tension glaucoma of 0.75 and for normal tension glaucoma of 0.70. Pharmacogenomics is an increasingly important arena, and I will present novel work in large population‐based studies exploring the prediction of response to prostaglandin agonists using genetics. The International Glaucoma Genetics Consortium GWAS of over 30 000 people with glaucoma and 300,000 controls is currently being analysed and preliminary results will be discussed.
Xeno‐free Cultivated Limbal Epithelial Stem Cell Transplantation: result of an ongoingphase I/II clinical study
Authors: Ni Dhubhghaill Sorcha 
Published: December 2019

AbstractLimbal stem cell deficiency (LSCD) is a condition that results from a loss of limbal stem cells or a dysfunctional limbal microenvironment. The term refers to a highly heterogeneous group of pathologies ranging from acquired diseases such as chemical burns to severe autoimmune conditions, iatrogenic trauma and genetic abnormalities such as aniridia. Here we report the clinical results of an ongoing clinical trial (2015–2020) using a cultivated limbal epithelial transplant (CLET) for a variety of LSCD causes including chemical burns, thermal burns and aniridia, both unilateral and bilateral. Currently 28 CLET surgeries have been performed on 23 eyes, with a median follow up of 19 months (range 2‐42 months). Seventeen patients were treated with autologous CLET, 4 patients with allogenic CLET from a living‐related HLA‐matched donor and 2 patients with HLA‐matched cadaveric donor CLET. Five patients required a second CLET and an elective penetrating keratoplasty (PK) was offered least one year after the CLET. Eleven patients are currently graded as a total anatomical success (47.8%), two patients are grade as partial success (8.7%), eight cases were deemed total failures (34.8%) and two patients were excluded due to a complication (8.7%). BCVA, pain and photophobia outcomes denoting functional success are also presented.
The role of Pax6 transcription factor in development of the anterior segment
Authors: Kozmik Zbynek 
Published: December 2019

AbstractEye development is extremely sensitive to the levels of Pax6. Reduction in the levels of Pax6 in heterozygotes for a Pax6 null allele results in ocular abnormalities including Aniridia in humans and Small eye in mice and rat. In the complete absence of Pax6 protein in Pax6‐deficient mice lens induction does not occur, and the neural retina as well as retinal pigment epithelium do not differentiate. It is well established that Pax6 function is required both in the lens placode and in the optic vesicle. Conditional gene inactivation in mice concomitant with lens induction established the critical and cell‐autonomous role of Pax6 for subsequent lens formation. Similarly, optic vesicle deficient for Pax6 transcription factor fails to develop into a proper neural retina. We used CRISPR/Cas9 genome engineering to mutagenize Pax6 gene in a mouse model. We were able to generate novel alleles of Pax6 that manifest profound lens phenotypes without showing apparent phenotypic changes in the neural retina or retinal pigment epithelium. Our data indicate an extreme sensitivity of early stages of lens development for the presence of intact, fully functional Pax6 protein.
Clinical signs of paraproteinemic keratopathy
Authors: Lisch Walter 
Published: December 2019

AbstractMonoclonal gammopathies are much more common than previously known in Ophthalmology. In the so‐called benign form or MGUS (Monoclonal Gammopathy of Undetermined Significance) different corneal opacities can be observed, in which the patients having no subjective symptoms or conspicuous systemic findings other than corneal opacities which were summarized as Paraproteinemic Keratopathy (PPK). It is therefore to be demanded that in all elderly patients with bilateral unclear corneal findings, Serum Protein Electrophoresis (SPE) should be performed to include or exclude monoclonal gammopathy.
OCT findings in keratoconus. OCT is better?
Authors: Wowra Bogumil 
Published: December 2019

AbstractKeratoconus as corneal ectasia is could be difficult to diagnosing especially in early stages. OCT of anterior segment is very helpful to recognize early stages of KC and useful to observe progression of the corneal changes. OCT is simple, repetable and non invasive method. KC grading is automatically estimated and progression is visible.
IOP measurement and cornea: Methods and limitations
Authors: Grieshaber Matthias 
Published: December 2019

AbstractThe intraocular pressure is still the major risk factor for development and progression of glaucoma. For decades the Goldmann applanation tonometry has been the gold standard for measuring intraocular pressure; however, there are newer methods of measuring intraocular pressure, each one has advantages and disadvantages and depends on the corneal properties like thickness and stiffness. This talk will focus on the different methods and their limitations with regard to measuring intraocular pressure.
Immune mediators of host defence at the Ocular surface and Cornea
Authors: DUA Harminder 
Published: December 2019

AbstractVision is of paramount importance for survival of sighted species. The cornea, the clear ‘window’ of the eye is a key component in both transmission and focusing of light. Being at the interface with the environment, it constantly interacts with allergens, chemicals and microbes. Its challenge is to maintain functionality despite its avascularity. This is achieved by the cornea being part of the ocular surface (OS) unit. The OS is endowed by a wide range of cellular and humoral immune mediators that constitute ‘host defence’. The mononuclear (and polymorphonuclear) cells of the conjunctival substantia propria provide the full range of cellular immune responses of the afferent and efferent limbs. Lysozyme, complement, lactoferrin, complement and immunoglobulins are mediators of innate and acquired immune responses. Another key family of molecules are the antimicrobial peptides (AMPs). AMPs are ubiquitous natural effectors of innate immunity conserved across plants and animals. The have broad spectrum of microbicidal activity and serve several other non‐immune functions related to wound healing and metabolism. Over a dozen AMPs have been identified at the OS. Their characteristics and functions will be presented and their therapeutic potential in corneal defence will be discussed.
The aims and scopes of the ERN‐EYE
Authors: Liskova Petra 
Published: December 2019

AbstractIntroduction of the European Reference Network for rare and low prevalent eye disorders (ERN‐EYE) will be presented. Rare eye diseases display major heterogeneity and represent the leading cause of visual impairment in children and young adults. Significant barriers remain for early diagnosis, patient management and research. ERN‐EYE has been created to improve diagnosis and management of patients with rare ocular disorders as well as to raise awareness, facilitate research and introduction of novel therapies.
Professor Dr. Reimond Speleers, the sad story of the man of Katyn
Authors: De Sutter Edward 
Published: December 2019

AbstractThe sad story of Prof. Dr. med. Speleers with emphasis on his role in the Katyn Red Cross commission. Prof. Dr. Speleers was a Flemish ophthalmologist. He was born in 1876. He received his education in high school and at the university in French as it was the rule at those times in the kingdom of Belgium. He attended the Hirschberg Clinic in Berlin in the beginning of his ophthalmological career. He was involved in the struggle for Flemish independence and use of the local language Flemish or Dutch in the education especially at the Ghent University. At the University of Ghent the teaching language was French and during the war, like in Poland, the Germans ruled that the teaching language has to be the language of the region. After the war he was sentenced for life and as Hirschberg, Axenfeld and others removed from the Belgian Ophthalmological Society as a member. In Holland he continued his ophthalmological career and his fight for his people. During the Second World War, he was appointed again at the State University of Ghent as ophthalmological Professor. He was a member of the Red Cross investigation on the mass murder of Katyn in 1942 in Poland by the Soviet Army. He was imprisoned for life after the ww2 for taking part in that commission by the Belgian justice.
Corneal dystrophies as a cause of recurrent erosions
Authors: Lisch Walter 
Published: December 2019

AbstractEspecially in anteriorly located corneal dystrophies, recurrent erosions can be observed and are associated with many different histopathological and genetic etiologies: with microcysts in Meesmann corneal dystrophy (MECD) from KRT3 and KRT12 mutations, with aberrant epithelial basement membrane in epithelial basement membrane dystrophy (EBMD), with gradual scarring from COL17A1 mutation in epithelial recurrent erosions dystrophy (ERED), with distinct deposits in the five epithelial‐stromal TGFBI‐related corneal dystrophies, and with deposits and epithelial thinning in macular corneal dystrophy (MCD) from CHST6 mutations. Rarely does a secondary form occur in the Fuchs endothelial corneal dystrophy (FECD) due to an erosive rupture of an epithelial bleb.
One or many? Are there benefits for using test batteries for the classification of congenital colour vision deficiencies?
Authors: Jordan Gabriele 
Published: December 2019

AbstractFor reasons of safety or quality control many professions require their potential employees to have normal colour‐vision. A variety of screening tests for colour‐vision deficiencies (CVD) exist, but there is a clear trade‐off between reliability of diagnoses and practical efficiency. For example, the Ishihara Plates are praised for their high sensitivity, speed and ease of use and are the most common primary test in occupational settings. However, the test does not reliably classify type or severity of known CVDs, different versions may give slightly different results, and false positives are common. On the other hand, the gold standard for characterising CVD is the anomaloscope, where an individual’s Rayleigh match provides an index of the relative spectral sensitivities of the L and M cones and gives a definitive classification of CVD type and severity. However, the instrument is expensive, needs a highly experienced examiner and often requires extended testing time. More recent, sophisticated tests such as the ‘Cambridge Colour Test’ and the ‘Colour Assessment and Diagnosis’ test’ show good selectivity and specificity, but are expensive and therefore not widely used by many employers. Given the variety of choice in standardised tests available to recruiters, the presentation will consider the reliability and consistency in the classifications of CVD for a battery of potential tests.
Filaggrin marker in ocular allergy
Authors: Heegaard Steffen 
Published: December 2019

AbstractBackgroundFilaggrin (filament aggregating protein) is a filament‐associated protein that binds to keratin fibers in epithelial cells. Mutation of the filaggrin gene can interfere with the skin's ability to act as a barrier. Filaggrin also plays an important role in keeping the physiological acidic pH of the skin. This allows water to be lost from the skin, but also that bacteria can enter. This can lead to allergies, irritation and infection of the skin. Loss‐of‐function mutations in FLG, the human gene encoding profilaggrin and filaggrin, have been identified as the cause of severe forms of dry skin and/or eczem. These mutations, which are carried by up to 10% of people, also represent a strong genetic predisposing factor for atopic eczema, asthma and allergies. Around half of all those with the more severe forms of atopic eczema are thought to have a filaggrin deficiency.PurposeTo investigate 13 French children with atopic excema for mutation of the filaggrin gene.ResultsOnly one French child had mutation in FLG.DiscussionThe incidence of mutations in the filaggrin gene is much rarer in France in contrast to the Nordic countries where mutations are seen in 10%. The meaning of this will be evaluated and discussed.
Immunotherapy and systemic chemotherapy for the treatment of intraocular lymphoma. Indications and results
Authors: Soussain Carole 
Published: December 2019

AbstractPrimary vitreo‐retinal lymphoma (PVRL), which is part of the primary central nervous system lymphoma (PCNSL) group, is a rare presentation with a dismal prognosis. In addition to the functional prognosis on the vision, PVRL are at high risk of dissemination in the CNS. The therapeutic management of PVRL remains controversial, ranging from local treatment, systemic chemotherapy and even intensive chemotherapy with autologous stem cell transplantation. Targeted therapies have recently shown encouraging result in relapse or refractory PVRL. We will review the different options for systemic treatments of PVRL in front‐line and at relapse and highlight the needs for improving the outcome of patients with PVRL. Although intra‐ocular (IO) involvement of PCNSL does not appear to worsen the prognosis of PCNSL, the management of IO involvement is still controversial and suboptimal.
Retinal diseases after irradiation
Authors: Baillif Stephanie 
Published: December 2019

Abstract"Radiation retinopathy is a slowly progressive, delayed‐onset occlusive microangiopathy of the retinal vasculature that occurs with variable latency after exposure of the retina to ionizing radiation. Within the retina, the posterior pole is particularly sensitive to this pathology. Radiation maculopathy has grave implications for visual prognosis. In this presentation, the wide spectrum of radiation retinopathic manifestations is described with ophthalmoscopic signs and multimodal imaging. The management of radiation retinopathy/maculopathy is discussed."
Corneal endothelial cell‐matrix interactions in Fuchs corneal endothelial dystrophy
Authors: Brunette Isabelle 
Published: December 2019

AbstractFuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells (CECs) and excessive deposition of extracellular matrix, resulting in Descemet's membrane thickening and formation of excrescences (guttae) on its posterior surface. The role of the endothelium being to keep the cornea dehydrated and transparent, loss of corneal endothelial function leads to corneal edema and vision loss. FECD etiology is multifactorial, involving a combination of parameters such as age, environmental factors and genetic predisposition, and genetic and proteomic studies have given rise to several hypotheses regarding the pathogenesis of FECD. Up to recently, however, most of the work has focused on CECs as the primary site of the disease, while several clues suggest that interactions between CECs and their environment are significantly involved in the development of FECD. The influence of the altered topography and composition of diseased Descemet's membrane and guttae on CECs in FECD will be discussed.
NAD+/NADH precursor treatment protects against retinal degeneration
Authors: Boatright Jeffrey 
Published: December 2019

AbstractPurposeThe retina is highly metabolically active, suggesting that metabolic dysfunction could underlie many retinal degenerative diseases. Nicotinamide adenine dinucleotide (NAD+) is a coenzyme and a co‐substrate in several cellular energetic metabolic pathways. Retinal NAD+ levels decline with age and during retinal damage or degeneration. Maintaining NAD+ levels may be therapeutic in retinal disease. The purpose of this study was to investigate whether systemic treatment with nicotinamide riboside (NR), a NAD+ precursor, is protective in disparate models of retinal damage or degeneration.MethodsFour mouse models of retinal degeneration were tested: a mouse model of light‐induced retinal degeneration, the IRBP knock‐out mouse, rhodopsin‐Tvrm4 mutant mouse, and the rd10 mouse. Mice were IP injected with various concentrations of NR at various times relative to degeneration onset. Retinal function was assessed by ERG, retinal morphology was assessed by OCT and H & E or TUNEL staining, and visual function was assessed by OMR. Retinal NAD+/NADH levels were enzymatically assayed.ResultsEach retinal degeneration model exhibited significantly suppressed retinal and visual function, a severely disrupted photoreceptor cell layer, and significantly decreased numbers of nuclei and increased accumulation of TUNEL‐labeled cells in the outer nuclear layer. These effects were prevented by various NR treatment regimens. Treatment with NR also resulted in increased levels of NAD+ in retina.ConclusionsThis is the first study to report protective effects of NR treatment in models of retinal degeneration and suggests that maintaining retinal NAD+ via systemic NR treatment should be further explored for clinical relevance.
Targeting cGMP‐signalling to protect photoreceptors in hereditary retinal degeneration
Authors: Paquet‐Durand Francois ,   François Paquet‐Durand on behalf of the DRUGSFORD consortium
Published: December 2019

AbstractcGMP‐signalling is fundamental to the phototransduction cascade in retinal photoreceptors. Paradoxically, high levels of cGMP lead to photoreceptor loss in hereditary retinal degeneration (RD) caused by a variety of different gene mutations. This makes cGMP‐signalling a prime target for the development of new treatment approaches. The presentation will give details about the development of compounds and drug delivery technology designed for a targeted interference with cGMP‐signalling in photoreceptors. As an example, in vivo treatment data on a liposomal formulation of the inhibitory cGMP analogue DF003/CN03 will be presented. Overall, cGMP analogues may constitute a new class of compounds for RD treatment and, when combined with suitable drug delivery vehicles, they provide a clear perspective for clinical translation, potentially bringing the very first pharmacological treatment to patients suffering from RD.