bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Czech Republic experience in a corneal clinic
Authors: Liskova P. 
Published: September 2015

SummaryThe spectrum of monogenic corneal disorders identified in the Czech Republic is diverse. We have observed some of the rare disorders, such as cornea plana, megalocornea, Harboyan syndrome and brittle cornea syndrome, in Czech patients. We have also observed a founder effect for posterior polymorphous corneal dystrophy, which appears to have the highest worldwide prevalence in the Czech Republic. Molecular genetic confirmatory testing can be performed in settings with limited laboratory diagnostic services either on a research basis or via research collaborations. Experience from the Czech Republic suggests that monogenic corneal disorders, particularly those that are non‐syndromic, are under‐diagnosed.
Adaptive Optics
Authors: Paques M. 
Published: September 2015

SummaryDuring dry age‐related macular degeneration (ARMD), adaptive optics (AO) en face flood imaging improves the resolution of drusens and of pigmentary changes and hence of the progression of atrophic lesions. In addition, AO revealed the presence of numerous migrating hyporeflective clumps, which are most likely melanin‐loaded cells (MLCs). Time‐lapse imaging demonstrates a high kinetic activity of these MLCs, that appear to migrate subretinally because the photoreceptors are visible over them. The linear velocity of MLCs peakee at ~1 µm/day, hence they can be tracked only if there is a short ionterval of time between imaging sessions. As many adjacent MLCs are seen to migrate in opposite direction, there appears to be no migrating scheme. Such subretinal migration of MLCs occurs throughout the posterior pole, in atrophic as well as in nonatrophic areas. It is likely that these MLCs correspond to the hyperreflective dots reported by optical coherence tomography. The nature of these cells and their role in the process of ARMD remains to be clarified. Nevertheless, we believe that this finding may have important consequences for the understanding and monitoring of dry ARMD, as well as for the validation of experimental models of ARMD.
Cases
Authors: Black G.C. , Hall G. , Ramsden S. 
Published: September 2015

SummaryWithin the context of the Ophthalmic Genetic Clinic, the diagnosis of Inherited Eye Diseases (IED) requires an integrated approach. This can not only determine clinical management and treatment, but also direct genetic counselling, which is valuable both for the patient and relevant to their wider family. Such an approach requires an accurate history (including a detailed three generation family history), as well as detailed clinical examination, imaging and investigation. Increasingly, such an process requires the integration of genomic testing via Next Generation Sequencing with can include multigene panels, clinical exomes or even whole genome sequencing. The presentation will include a range of examples to span the breadth of IED including developmental disorders (such as microphthalmia/anophthalmia and congenital cataract), anterior segment disorders as well as inherited retinal disorders (both childhood and adult onset). This will illustrate the power of a multidisciplinary and integrated apporach to the diagnosis of IED.
Gene panels and genomic testing for childhood cataract and lens dislocation disorders
Authors: Black G.C. , Hall G. , Ramsden S. , Lloyd I.C. 
Published: September 2015

SummaryCongenital cataract (CC) affects 3–5 individuals per 10,000 and is a significant cause of lifelong visual disability worldwide. Highly heterogeneous, CC may be isolated or may form one manifestation of a multisystemic condition. It is estimated that around 50% of bilateral CC cases have a genetic basis, with well over 100 genes implicated in their underlying etiology. Consequently, the identification and characterisation of CC is not equivalent to making a clinical diagnosis on which is based care planning, genetic counselling and non‐ocular management. Until recently, clinical investigation of patients with CC has been based upon an iterative, clinically‐driven process that is expensive, time‐consuming and inefficient. The advent of Next Generation Sequencing promises to provide a platform upon which can be built a unified approach to diagnosis. We, and others, have shown that such an approach can identify the molecular basis of CC and other lens‐related disorders such as lens subluxation in the majority (over 70% in our series) of cases. When applied early in the diagnostic pathway this can direct ongoing management, improve outcomes for pathents, and direct genetic counselling for families with CC.
Masquerade syndromes in children
Authors: Desjardins L. , Cassoux N. 
Published: September 2015

SummaryIn children the main diagnosis problem are represented by retinoblastoma and rhabdomyosarcoma.Retinoblastoma can sometimes present as an inflammatory disease with conjunctival and orbital inflammatory reactions. Some tumors can be the cause of major vascular dilatation and exudation which can simulate coats disease. Diffuse infiltrating retinoblastoma can simulate uveitis. All these aspects will be described extensively. One has to keep in mind the necessity of complete fundus examination in case of strabismus or leukocoria. In case of unilateral retinal detachment or uveitis, the possibility of retinoblastoma should always be ruled out before any surgery.Rhabdomyosarcoma usually presents like a rapid exophtalmia with inflammation but can also appear as a conjunctival or palpebral mass. It should not be mistaken for infectious disease and orbital biopsy should be performed promptly.
The corpus callosum in human binocularity and strabismus
Authors: Ten Tusscher M. 
Published: September 2015

SummaryIntercortical visual transfer has been shown important in mammalian binocularity. The present study aims at demonstrating intercortical visual callosal transfer in 16 human subjects using DTI, fMRI and connectivity. With fMRI brain activation was analysed during central and peripheral retinal stimulation. These were compared with right and left sided stimuli during RE and LE fixation. Results were analysed in a 2 × 2 × 2 ANOVA with p = 0.005. Callosal fiber tracts were visualised with DTI. With fMRI it showed that RE fixation is associated more with significant signal changes in the corpus callosum, both with right and left V1 co‐activation. Connectivity from the left V1 showed mostly de‐activation in the corpus callosum and activation if the eye is stimulated from the contralateral central area of the visual field. Callosal activity is associated stronger with stimulation of the temporal central retina and right eye fixation. The stronger trigger from the right eye is likely due to ocular dominance: during central stimulation of the temporal retina of the RE, activation in the left V1 is associated with de‐activation in the corpus callosum.
ANGIO‐OCT and DMLA (diagnosis and post‐treatment follow‐up)
Authors: Coscas G. , Lupidi M. , Coscas F. 
Published: September 2015

SummaryTo compare the OCT Angiography (OCT‐A) findings to the traditional multimodal imaging (TMI) in patients with exudative AMD (eAMD) in terms of diagnosis and treatment decision.80 eyes of 73 consecutive eAMD patients diagnosed with different types of CNV were enrolled. The data obtained from the TMI, based on Fluorescein Angiography (FA), Indocyanine green angiography (ICGA) and OCT, were compared with the ones achieved by OCT‐A (Spectralis, Heidelberg Engineering, Heidelberg, Germany). The lesion's activity in TMI was established according to leakage on FA, evidence of CNV network on ICGA and fluid accumulation on OCT, while in OCT‐A was based on the shape, the branching pattern, the anastomoses, the vessel termini and the perilesional hypo‐intense halo. Both OCT‐A and TMI allowed the recognition of 5 types of neovascularization (Type I, Type II, Mixed Type I‐II, CRA, AMD‐related polyps).The two methods achieved the same diagnosis in 95% of cases. The percentage of full agreement in determining the CNV activity between the two imaging protocols was 92.5%.Our study highlights the capability of OCT‐A to diagnose, determine the type, grade the activity and guide the treatment of a choroidal neovascular lesion in an eAMD patient.
Differential diagnosis of papilloedema
Authors: Kawasaki A. 
Published: September 2015

SummaryOptic disc swelling is a non‐specific manifestation of injury to the intraorbital portion of the optic nerve, the nerve head (or disc). By convention, the term “papilledema” refers to optic disc edema that is due to increased intracranial pressure. Increased intracranial pressure typically causes bilateral swelling of the optic discs, although asymmetry in the degree of disc edema is not uncommon. Truly unilateral papilledema is rare. In most cases of papilledema (increased intracranial pressure), visual function is relatively preserved. This lecture will present the differential diagnosis of patients who present with bilateral disc edema of unknown etiology and discuss how to distinguish those who have true papilledema of increased intracranial pressure.
Neuro‐ophthalmic considerations and investigations
Authors: Kawasaki A. 
Published: September 2015

SummaryUnexplained visual loss is a challenging clinical situation. It is important to distinguish underlying occult pathology from visual loss without organic basis. Even trickier are patients in whom concurrent organic disease does exist but the degree of visual dysfunction is exaggerated, leading to the false notion of malingering. This lecture examines some objectives techniques for discerning visual function in the patient with medically unexplained visual loss.
Optic nerve hypoplasia: Evaluation and genetic considerations
Authors: Yu‐Wai‐Man P. 
Published: September 2015

SummaryThe minimum prevalence of optic nerve hypoplasia has been estimated at 1 in 10,000 and unlike other causes of childhood blindness, the incidence of this congenital disorder is still increasing in the developed world. From a practical point of view, children with optic nerve hypoplasia need to be properly evaluated given the strong association with a number of developmental brain abnormalities and potentially life‐threatening neuroendocrine dysfunction. This presentation will also review the complex aetiology and emerging genetic basis for this important cause of visual impairment in young children.
Future plans: Exams in retina, paediatrics, cataract and cornea
Authors: Creuzot C. 
Published: September 2015

SummaryDue to the heterogeity of ophthalmological practice all over Europe, there was currently no structured and standardised subspecialty training in the various fields of ophthalmology. Ophthalmologists who wish to pursue a more advanced training in the ophthalmological subspecialty of their choice mostly organize their own training and decide individually on their level of knowledge and capability. There was no formal process of assessment and recognition of their expertise. The goal of the EBO Subspecialty diploma is to award ophthalmologists who have completed an ophthalmological subspecialty training and achieved clearly defined prerequisites defined in collaboration with the different subspecialty societies. The first experiment has been organised this year with glaucoma with a close collaboration between EBO and EGS (European Glaucoma Society). In the future, EBO will act as an umbrella organization of the exam in close collaboration with the different European subspecialty societies. The assessment will be based on MCQs, clinical cases, oral examination, and discussion about published articles. If awarded, the candidates will be recognized as Fellow of the EBO in their field of expertise (ie retina, paediatrics, cataract …)
Steroids agents in the management of vitrectomized eyes with diabetic macular edema
Authors: Zambarakji H. , Papastefanou V. , Dooley I. 
Published: September 2015

SummarySteroid treatments for diabetic macular edema (DME) include intravitreal Triamcinolone Acetonide (IVTA) or subtenon Triamcinolone Acetonide (STTA), the Dexamethasone 0.7 mg implant (Ozurdex, Allergan) and the Fluocinolone 190 µg implant (Iluvien, Alimera). Most IVTA studies in vitrectomized eyes have too many confounders including additional treatments such as macular laser or anti‐VEG injections, variable outcome measures and follow up times. Furthermore, IVTA was usually given either at the time of pars plana vitrectomy (PPV) to better visualize the vitreous, or at the end of PPV and sometimes combined with an anti‐VEGF. STTA data are based on small non‐randomized studies with short‐term follow up. Whilst some studies have shown limited benefit, studies that compared vitrectomized and non‐vitrectomized eyes found no difference in VA. Current data based on the Ozurdex implant in vitrectomised eyes found short‐term benefit for both visual acuity (VA) and macular thickness. No data is available at the present time for the use of the Iluvien implant for DME in previously vitrectomized eyes. Randomized controlled data are lacking to evaluate the role of steroids for the management of DME in the vitrectomized eye.
Introduction and overview
Authors: Spalton D. 
Published: September 2015

SummaryPCO remains the commonest complication of cataract surgery and is a particular problem with presbyopia correcting multifocal IOLs which are more sensitive to mild PCO and it remains the barrier to a truly accommodating IOL. This presentation reviews the current clinical status of PCO prevention and in particular the contribution of IOL material and design. Hydrophobic materials appear to induce less PCO than hydrophilic polymers and the reasons for this will be discussed. Square edge profile IOLs have reduced the incidence of PCO but delay rather than cure the problem, edge profile quality is however is very variable and this has clinical implications. Haptic design also affects PCO performance. New ‘open bag’ IOL designs appear to offer a significant improvement in PCO prevention.
Pathophysiology of uveitis
Authors: Dick A. 
Published: September 2015

SummaryThis talk will overview the pathophysiology of non‐infectious uveitis in relation to recent SUN (standardised uveitis nomenclature) disease classification. The experimental and translational human evidence of autoimmunity and activation of immunity will be discussed. In addition the talk will highlight the pathways and mechanisms of tissue damage that results in sight‐threatening disease. Traditionally, despite active immune regulatory mechanisms operative within the ocular environment, inflammation still occurs. Activated antigen and non‐antigen specific T cells are generated in uveitis. The interplay with innate immunity and in particular cells of myeloid lineage both systemically and within the local environment dictate the severity and extent of pathology we observe. The understanding of immune responses during the uveitis open many avenues to potential novel immunotherapies that not only suppress inflammation but attempt to redress immune balance, tolerance and local homeostasis within ocular tissues.
Neurodegeneration and vascular impairment in the eye of diabetic patients
Authors: Simó R. , Hernández C. 
Published: September 2015

SummaryDiabetic retinopathy (DR), one of the leading causes of preventable blindness, has been considered a microcirculatory disease of the retina. However, there is emerging evidence to suggest that retinal neurodegeneration is an early event in the pathogenesis of DR, which participates in the development of microvascular abnormalities. Therefore, the study of the underlying mechanisms leading to neurodegeneration and the identification of the mediators in the crosstalk between neurodegeneration and microangiopathy will be essential for the development of new therapeutic strategies.In my lecture, an updated discussion of the mechanisms involved in neurodegeneration, as well as the link between neurodegeneration and microangiopathy, will be presented. Finally, the therapeutic implications and new perspectives based on identifying those patients with retinal neurodegeneration will be given.
Monocarboxylate transporters and their functions in the retina
Authors: Osborne N. 
Published: September 2015

SummaryMonocarboxylate transporters (MCTs) have important functions in healthy tissues, being involved in the transmembrane transport of lactate and other monocarboxylic acids. MCTs are a family of transporters which is presently composed by 14 members, but only MCT1–4 have been biochemically characterized. MCTs are located in the cornea, iris and ciliary body as well as the retina and pigment epithelium (RPE)/choroid. MCT1 is localized particularly to the apical and MCT3 to the basal membrane of the RPE. MCT1 is located to photoreceptor inner segments, Müller cells, retinal capillaries, and the two plexiform layers. In contrast MCT2 labelling is concentrated in the inner and outer plexiform layers with MCT4 being associated only in the inner nuclear retina and the plexiform layers.In an attempt to understand the role of pyruvate/lactate transport in the retina the influence of a specific MCT inhibitor (4‐cyano‐4‐hydroxycinnamate or 4‐CIN) was tested on ischemia/reperfusion in the rat. No evidence was found to support the view that blockade of lactate/pyruvate entry into mitochondria for oxidative metabolism has an influence on the outcome of retinal ischemia/ reperfusion.
Normal vision, strabismus and the corpus callosum in animals
Authors: Milleret C. 
Published: September 2015

SummaryIn the primary visual cortex of higher mammals, both the retino‐geniculo‐cortical (RGC) and the interhemispheric callosal pathways contribute to the unification of the visual hemifields that project separately within the two hemispheres. Anatomical and functional studies performed on animals reveal that each pathway complements each other both spatially and in terms of binocularity. They also reveal that this pattern emerges progressively with age during the critical period, proving however postnatal visual experience has been normal. In case of abnormal postnatal vision such as the one led by strabismus, both pathways develop abnormally. In particular, we have shown recently that asymmetrical callosal connections develop and this prevents the establishment of a unifying representation of the two visual hemifields. As a general rule, we suggest that crossed and uncrossed RGC pathways contribute successively to all this.ReferenceC. Milleret et al. Eur. J. Neurosci. 1994, 6:193; JC Houzel et al. 1994, Eur. J. Neurosci. 6: 898; C. Milleret & J.C. Houzel. Eur. J. Neurosci. 2001, 13:137; N. Rochefort et al. Neuroimage, 2007, 36:804; E. Bui Quoc et al. Frontiers in Neuroanat. 2011, 5: 1‐29; Ribot et al. J. Neurosci. 2013, 33:13326.
Matrix metalloproteinase in diabetic retinopathy
Authors: Opdenakker G. 
Published: September 2015

SummaryThe inflammatory processes in diabetic retinopathy (DR) are executed by leukocytes and their molecules. An important class of leukocyte effector molecules are the matrix metalloproteinases (MMPs), which are used by leukocytes to penetrate sites of inflammation. More than 20 MMPs are counteracted by 4 natural tissue inhibitors of metalloproteinases (TIMPs). By analysis of vitreous fluids of patients with diabetic retinopathy and ophthalmological controls, MMP‐9 has been detected as a disease marker of eye inflammations. MMP‐9 is a gelatinase and cleaves denatured and not intact collagens. For collagenolysis, one of the collagenases (MMP‐1, MMP‐8 and MMP‐13) need to be present. In DR, MMP‐1 levels are increased in the vitreous and may execute collagenolysis. In addition, MMP‐9 also cleaves the neuroprotective factor prominin‐1/CD133, abundantly present in photoreceptors. The fact that MMP‐9 gene knockout mice are resistant to the development of DR suggests MMP‐9 inhibition may be beneficial. The techniques to detect various forms of MMPs and the relevance of inhibitors will be discussed.References(1) PLoS One (2013) 8: e85857; (2) Progress in Retinal and Eye Research (2014) 43: 76–91; (3) Nature Methods (2013) 10: 211–220.
Behçet's uveitis in Turkey, why is it still number one?
Authors: Tugal‐Tutkun I. 
Published: September 2015

SummaryPathogenetic mechanisms underlying Behçet's disease include complex interactions between genetic factors, environmental factors, and immunological aberrations. The strong association of Behçet's disease with the HLA‐B51 antigen has been known for more than 3 decades. Recent genome‐wide association studies have also shown several shared genetic factors throughout the old Silk Route. In contrast to the recent trend for lower disease prevalence and milder disease forms in Japan, Behçet's disease still accounts for around 25% of uveitis cases in Turkey. This suggests the strong role of environmental factors in disease onset and phenotype. Infections are suspected in the initial triggering of the disease as well as in relapses of its manifestations. It is thought that an aberrant immune response may be generated to different microorganisms recognized by pattern receptors in genetically susceptible individuals. An impaired microbial clearance and exuberant innate and adaptive immune responses to microbial products may have a major contribution to the pathogenesis. Better socioeconomic status with improved living conditions and personal hygiene in the Turkish population will hopefully lead to a lower disease prevalence and severity.
Classification of diabetic retinopathy: from screening to diagnosis
Authors: Wiedemann P. 
Published: September 2015

SummaryThe global incidence and prevalence of diabetes mellitus have reached epidemic proportions. Estimates indicate that more than 350 million people will be affected by diabetes mellitus by 2030. All of these individuals will be at risk of developing diabetic retinopathy (DR). It is necessary to categorize, classify and stage the severity of DR in order to provide adequate therapy. With proper management more than 90% of cases of visual loss can be prevented. The purpose of this presentation is to review the classification of DR with a special emphasis on the International Clinical Disease Severity Scale for DR. This new classification is simple to use, easy to remember and based on scientific evidence. It is based on clinical examination and applying the Early Treatment of Diabetic Retinopathy Study 4:2:1 rule. Together with general medical information it allows a risk based assessment. Specialized examinations such as optical coherence tomography or fluorescein angiography support treatment decisions.
Risk of visual impairment from glaucoma
Authors: Crabb D. 
Published: September 2015

SummaryMonitoring diagnosed glaucoma patients represents a significant burden on clinical services, with an estimated one million visits annually in the UK alone. Visual field (VF) tests are routinely used for detecting worsening of vision. We modelled VF loss during patient's predicted lifetime by examining more than 400,000 VFs from four regionally different glaucoma clinics/services in England. Levels of VF loss were summarised using the Mean Deviation (MD) index from each test. MD at diagnosis and MD loss during predicted remaining lifetime, using a linear rate of MD deterioration (dB/year) and residual life expectancy tables, were calculated and plotted on motion graphs. Most patients followed in clinics have stable disease. Five percent (95% confidence interval: 4–6%) of patients were predicted to be at risk of statutory blindness in their lifetime [1]. Likelihood of a patient suffering serious visual impairment in their lifetime is linked to level of VF loss at presentation. These findings, from retrospective analysis of ‘big data’ residing in clinics, could help inform planning of follow‐up in glaucoma and also illuminate the importance of detecting the disease before it becomes advanced ([1] Saunders et al 2014. IOVS).