bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel congenital Stargardt‐like macular dystrophy
Authors: BITOUN P , PIPIRAS E , RIGAUDIERE F , AUDO I , MEYER M , BENZACKEN B , DELAHAYE A 
Published: September 2009

Abstract Purpose Many forms of macular dystrophies have been described including Stargardt disease, dominant Stargardt like disease, Best disease, Carolina macular dystrophy, Bietti’s disease, and age related macular degeneration linked to ABCA4, CFH, C2 and ARMS 2 mutation or predisposing risk alleles. We describe a patient with a novel congenital macular dystrophy presenting with congenital nytagmus and low vision. Methods A 5 year‐old girl presenting with low vision was seen for genetic counseling. She was born at term from consanguineous first cousin parents with nystagmus and corpus callosum agenesis. We report on her complete ophthalmologic neurologic and genetic findings. Results Her visual examination showed distance acuity of 20/200 bilaterally and near acuity of P 4. Her fundus examination showed bilateral oval areas of macular atrophy. Angiography confirmed symetric macular atrophy with Normal autofluorescence. Electrophysiology showed bilateral normal flash ERG and pattern VEP symmetric tracings showing no response to 15° pattern VEP at right and a delayed P100 response at left compatible with macular bundle dysfunction. OCT examination showed complete macular atrophy with thinning of the retina and interruption of the photoreceptor layer. ETDRS Center Macular thickness was 102 microns at right and 92 at left, ETDRS macular volume was 4.65 mm3 at right and 4.32 mm3 at left. ABCA4 testing was negative for mutations. Both parents had normal visual acuity, ERG, VEP and OCT and angiographs. Conclusion This is the first presentation of a Stargardt congenital developmental macular dystrophy with apparently recessive inheritance.
Analysis of SERPING1 and its association with age‐related macular degeneration
Authors: CARTER JG , CHURCHILL AJ 
Published: September 2009

Abstract Purpose The genetics of age‐related macular degeneration (AMD) pathogenesis is a growing area of interest. In the last year a new potential association locus has been reported; SERPING1, a C1 inhibitor of the compliment pathway. We present our own assessment of the SERPING1 AMD‐risk locus. Methods Patients with exudative AMD (n=94) and age‐matched controls (n=95) were selected for study. All subjects were genotyped for the SERPING1 polymorphism identified as a new risk locus for AMD; rs2511989, IVS6‐865 g>a. Genotyping was determined by direct sequencing. Statistical analysis was attained using SPSS v15 (SPSS Inc.). Results Carriage of the G allele was raised in AMD group vs. controls (61.2% vs. 57.6%), but was not statistically significant (p=0.48). No significant associations were seen in genotype carriage between AMD and control groups (e.g. GG genotype, 40.4% vs. 30.4%, p=0.22). Conclusion No significant associations were seen between SERPING1 and AMD in this study. Only two published analyses have examined this potential association, and these studies produced conflicting results. While it appears SERPING1 mRNA is produced in the eye, the functional effects of the rs2511989 locus have yet to be determined. More work is needed to identify the biological role, if any, SERPING1 plays in the development of AMD.
Toxic effect of vigabatrin on retinal nerve fiber layer
Authors: MIDELFART A , MOSENG L , SAETER M 
Published: September 2009

Abstract Purpose To investigate whether peripheral and central visual field defects detected among epilepsy patients treated with vigabatrin are associated with reduced peripapillary retinal nerve fiber layer thickness as measured with optic coherence tomography (OCT). Methods Nine epilepsy patients with vigabatrin‐attributed visual field loss (group 1) and seven patients(age and sex matched) with epilepsy treated with other drugs(control group 2) were regularly examined with automated perimetry up to 60 degrees from fixation point (Humphrey Field Analyser). Peripapillary retinal nerve fiber layer thickness (RNFLT) was quantified by optic coherence tomography (OCT) using Fast RNFLT protocol, Stratus OCT (3.0). Five of the patients in group 1 had peripheral visual field defects, (group 1a), four had a central field defect(group 1b). All patients in control group 2 had normal visual field. Results Patients with vigabatrin‐attributed visual field loss had attenuated total RNFLT compared to controls (right eye : mean total RNFLT: group 1: 75.6 µm (SD 12.7); group 2: 103.5 µm (SD 9.7), mean difference 27.9 µm (CI 15.9‐39.9;P < 0.001). The nasal and inferior sectors RNFLT were more attenuated in patients with vigabatrin‐attributed visual field loss compared to controls, while no difference was detected in the temporal RNFLT. Both individuals with peripheral and central visual field losses had attenuated mean total RNFLT compared to controls (P = 0.006 and P= 0.002, respectively). Conclusion Vigabatrin‐attributed visual field defects are associated with reduced RNFLT. Combination of perimetry and OCT can efficiently detect vigabatrin induced retinal nerve fiber damage.
A new technique of anterior TAP enhances the positivity of CMV by PCR in hypertensives anterior uveitis
Authors: KOCH P , LIESNARD C , JUDICE L , MAKHOUL D , WILLERMAIN F , CASPERS L 
Published: September 2009

Abstract Purpose Anterior uveitis can be severely disabling. Especially, hypertensives anterior uveitis can lead to a decrease in visual acuity, posterior synechiaes, cataract, glaucoma, etc. Diagnosis is frequently complex. Two main aetiologies are retained: non infectious (auto‐immunes) and infectious forms. Amongst the lasts, various aetiologies are possible. Viral anterior uveitis remained difficult to diagnose for a long time. However, since the emergence of the polymerase chain reaction (PCR), the diagnosis is definitely easier. Nevertheless, anterior TAP result is determined by different limitations including the puncture technique, the PCR primers used, and of course the investigated virus. Methods We hereby propose a new technique of anterior TAP that allowed us to increase our PCR results in CMV anterior uveitis. Two samples were obtained: firstly, a conventional anterior TAP was realised; followed by a rinsing of the anterior chamber with saline solution. A Goldman‐Witmer index for rubeola was performed in the first sample. Both samples were examined for viral PCR (HSV1, 2, VZV, CMV, EBV, Rubeola) Results We did not found any side effect of the technique used by comparison with normal anterior TAP. Diagnosis was obtained in 20 of the 35 eyes tested. Rubeola diagnosis was obtained in 11/20 eyes, VZV in 1/20, HSV1 in 4/20, and CMV in 4/20. Intriguingly, CMV diagnosis was obtained in three cases only in the second syringe and not in the first Conclusion We have, to date, detected 4 cases of CMV anterior uveitis in a cohort of 35 patients with anterior uveitis. We did not meet any complication but obtained interesting results concerning CMV diagnosis, using a rinsing of the anterior chamber (second syringe).
Can the corneal endothelium of the pig proliferate in vivo?
Authors: NICHOLLS S , BAILEY M , MITCHARD L , DICK AD 
Published: September 2009

Abstract Purpose To further validate a recently developed pre‐clinical model of corneal graft rejection in the inbred minipig, we have tested whether the corneal endothelium of the pig has proliferative capacity in situ. Methods Eyes of pigs were enucleated at slaughter, corneas were removed aseptically and subjected to freezing injury. They were cultured in vitro in OPTI‐MEM with 5% serum, endothelial side up, for up to 8 days. On days 0, 2, 4 or 8, corneas were washed, fixed and subjected to a silver stain to determine endothelial cell migration into the wound, or to Ki67 immuno‐labelling to determine whether endothelial cells had entered the cell cycle. Corneas of transplanted minipigs were monitored post‐rejection to determine whether graft opacity and oedema diminished. Results By day 8 of in vitro culture there was up to 6‐fold enlargement of endothelial cells on the periphery of the wound, but minimal migration of cells into the wound. Ki67+ endothelial cells were absent at harvest (n=5) and on day 1 of culture (n=3). Scattered isolated and occasional small clumps of Ki67+ cells were evident on day 2 (n=6), with no difference between injured and non‐injured corneas. Such cells were interpreted to be detached epithelial or endothelial cells, because they were not associated with the wound margin, appeared to be above the cells in the endothelial monolayer and had smaller nuclei. Results to date of clinical post‐graft monitoring reveal that corneal opacity and oedema did not improve by 37 days after maximal leukocyte infiltration, i.e. 50 days after onset of clinical rejection. Conclusion The pig corneal endothelium appears to have minimal capacity to proliferate in vivo. This model would therefore be valuable for testing anti‐rejection therapies.
Results of amniotic membrane transplantation with diathermocoagulation for corneal hydrops secondary to kerotoconus
Authors: MILKA M , WYLEGALA E 
Published: September 2009

Abstract Purpose To present the outcomes of corneal hydrops diathermocoagulation with amniotic membrane transplantation in eyes with keratoconus. Methods Studied group consisted of 15 persons, 6 women and 9 men (mean age 31,14± 9,92 years).All patients had extensive and persistent hydrops in the course of keratoconus,present for more than 20 weeks and refractory to traditional therapy.Time of observation ranged from 1.5 to 3.5 years.Central corneal thickness (Visante OCT, Carl Zeiss),corneal protuberance,BSCVA,subjective eye’s discomfort symptoms before and after the surgery,time to hydrops resolution and postoperative complications were assessed. Results Hydrops was successfully resolved in all eyes.The mean time of hydrops resolution was 15,7±5,78 days.The mean central corneal thickness was 487,24±19,57 µm 4 weeks after surgery and 463,59±17,21 µm 8 weeks after surgery.BSCVA was 0,18±0,28 4 weeks after surgery (before surgery 0,042±0,27).Eye’s discomfort symptoms (pain, tearing) collected 4 weeks after surgery completely receded in 5 patients (33,3%),decreased in 7 patients (46,6%),did not change in 3 patients (20%).Postoperative complications were:loss of contact lenses,suture loosening and corneal vascularization.In 3 patients,penetrating keratoplasty was performed with no episodes of rejection. Conclusion Diathermocoagulation of hydrops provides faster complete recession of the edema.Amniotic membrane transplantation strongly and sucsesfull reduces inflamation,scarring and vascularization of patient’s cornea.This kind of combined therapy effectively treats persistent hydrops,increases the comfort of patient’s life and stabilize ocular condition before penetrating keratoplasty.
In vivo confocal microscopic evaluation of inflammatory changes in the ocular surface
Authors: LABBE A , BAUDOUIN C 
Published: September 2009

Abstract Purpose The ocular surface constitutes a complex physiopathological and anatomical entity assuring the barrier between the outside world and the fragile ocular structures. Ophthalmic instruments such as the slit lamp, which magnifies approximately 40 times, cannot provide details of the corneal structures at the cellular level. Methods In vivo confocal microscopy using the HRT Rostock Cornea module® (HRT / RCM) provides better resolution and therefore outlines distinctively in vivo inflammatory changes occurring in the ocular surface. Results In vivo confocal microscopy is capable of providing corneal, conjunctival and limbal cellular details in different ocular surface diseases such as dry eye, infectious keratitis, toxic keratitis, corneal intraepithelial neoplasia or vernal keratoconjunctivitis. Conclusion In correlation with ex vivo impression cytology analysis, in vivo confocal microscopy constitutes an interesting aid in the diagnosis and management of complex ocular surface conditions.
Role of NO in retinal vascular disease
Authors: SCHMETTERER L 
Published: September 2009

Abstract Purpose Nitric oxide (NO) is a key regulator of vascular tone in all vascular beds including the eye. Hence, inhibition of NO synthase with L‐arginine analogues leads to a reduction of blood flow to all ocular tissues. This enables the investigation of the role of NO in the physiology of blood flow regulation, but also abnormalities of the vascular L‐arginine/NO system in ocular vascular disease. Methods A variety of studies investigating the role of NO in healthy humans but also in patients with vascular disease is summarized. Results Inhibition of NO synthase reduces retinal, choroidal and optic nerve head blood. A variety of studies also indicate that NO plays a role in the ocular vasodilator effects of numerous agonists including acetylcholine, bradykinin, carbon dioxide, histamine and insulin. In addition, NO appears to modulate the autoregulatory behavior of ocular vascular beds and is involved in retinal neurovascular coupling. In several ocular diseases such as diabetic retinopathy or open angle glaucoma abnormalities in the NO system can be observed. Conclusion NO is a major regulator of ocular blood flow in humans. The existence of different NO synthase isoforms makes it, however, difficult to therapeutically intervent via the L‐arginine/NO pathway. Further studies are required to characterize the role of the NO synthase isoforms in the control of ocular blood flow in more detail and to allow for therapeutic interventions in ischemic ocular eye disease via this attractive pathway.
Introduction on the multifaceted roles of nitric oxide in the retina
Authors: OSBORNE NN 
Published: September 2009

AbstractMultifaceted roles of nitric oxide in the retina. N.N. Osborne. Nuffield Lab of Ophthalmology, University of Oxford, Oxford, United Kingdom Nitric oxide (NO), a free radical gas with a half‐life of a few seconds is implicated in various physiological and pathophysiological roles associated with the retina and its vasculature. Generated by a family of nitric oxide synthetases (NOS), NO has been shown to bind to soluble guanylyl cyclase and to mitochondrial cytochrome c oxidase to activate defined signalling cascades. Different types of NOS exist and can be activated by calcium dependent (NOS1 and NOS3) or independent (NOS2) mechanisms. Generally, NOS1 is located to neurones while NOS2 and NOS3 are in glial and endothelial cells, respectively. NO is involved in communication between different neurones, glial cells and neurones, and in the interactions of endothelial cells with pericytes and neurones. As a consequence, a reduction in the generation of endogenous NO in the healthy retina can result in vasoconstriction; the consequences of such an affect on the retina and alterations in visual processing may alter the photoreceptor transduction mechanism and communication between retinal cells. The binding of NO to mitochondrial cytochrome c oxidase to effectively compete with oxygen has been suggested be involved in a number of processes. NO‐elicited events act as triggers by which mitochondrial signal transduction cascades become involved in the induction of cellular defence mechanisms and adaptive responses. Moreover, the effect of NO on the electron transport chain might lead to mitochondrial dysfunction and pathology. NO clearly has a multifaceted role in the healthy and unhealthy retina.
Nitric oxide and inflammation
Authors: DICK AD 
Published: September 2009

Abstract Purpose The talk will discuss the dichomatous role of nitric oxide in inflammation as a result of macrophage activation and also its role in controlling T cell responses. Methods We have used both microglial cell cultures, bone marrow derived macrophages and finally animal models of uveitis to dissect the role of macrophage activation and nitric oxide production in both tissue damage and limiting the extent of the inflammatory response. Results Macrophages when activated via T cell responses secreting interferon gamma, elicit a TNF‐dependent nitrite response. Inhibiting nitric oxide activity by either suppressing NOS2 or via inhibiting TNF activity results in marked suppression of macrophage activation and reduction in retinal damage observed during experimental autoimmune uveoretinitis (EAU). Macrophages regulate T cell responses, in part via nitric oxide production, but is dependent upon IFN‐gamma and autocrine TNF signalling via TNFReceptor1. Conclusion TNF and Interferon play essential roles in generating macrophage activation that elaborates in turn nitric oxide production. The nitric oxide, whilst damaging to cell membranes thus contributing to tissue damage during autoimmunity, also assists in regulating T cell responses by down regulating of T cell proliferation within the target tissue.
Relationship between the automated classification of Heidelberg retina tomograph and main indices of short‐wavelength automated perimetry
Authors: CALVO PEREZ P , FERRERAS A , PABLO LE , PAJARIN AB , POLO V 
Published: September 2009

Abstract Purpose To evaluate the relationship between Glaucoma Probability Score (GPS) provided by the Heidelberg Retina Tomograph (HRT) version 3 and main indices of short‐wavelength automated perimetry (SWAP) in glaucomatous eyes. Methods A total of 66 glaucoma patients were included in the study. Eyes were classified depending on intraocular pressure and standard automated perimetry (SAP) results. Only one eye per patient was randomly chosen. All participants underwent imaging with the HRT3, and numerical values of GPS were included in the statistical analysis. The Kolmogorov Smirnov test was applied to check data were normally distributed. Pearson’s correlations were calculated between global indices of SWAP (mean deviation [MD] and pattern standard deviation [PSD]) and global GPS values of HRT3. Results Mean age was 54.75 ± 9.1. MD of SAP was ‐6.2 ± 6.1, and MD of SWAP was ‐7.1 ± 5.8. No significant (p<0.05) correlations were found between GPS values and main indices of SWAP. Conclusion GPS evaluates glaucomatous damage independently of SWAP results.
Keratinisation of the Meibomian gland as an important factor in Meibomian gland dysfunction (MGD)
Authors: KNOP N , KNOP E 
Published: September 2009

Abstract Purpose Obstructive Meibomian gland dysfunction (MGD) is a widespread alteration and represents a main reason for evaporative dry eye syndrome. Hyper‐keratinisation of the ductal epithelium in response to various pathological stimuli appears as a typical underlying reason. Methods Own morphological data together with findings from the literature on Meibomian gland anatomy, physiology and pathology are discussed and used to propose factors and their interactions involved in the pathology of obstructive MGD. Results A large body of literature indicates that obstruction of the Meibomian gland is an important and widespread contributor to the pathology in MGD. Several findings indicate that keratinisation of the ductal system and orifice is the primary factor in obstruction of the gland. Histological and immunohistological data indicate that the whole ductal epithelium of the normal Meibomian gland shows signs of incipient stages of keratinisation, derived from its embryological ancestry. Hence, the gland preserves a commitment to full keratinisation if a proposed developmental block is removed due to various factors. Keratinisation leads to obstructive stasis of secretum inside the gland and to dilatation of the ductal system as well as to atrophy of the secretory acini. This results not only in decreased availability of Meibomian oil on the lid margin and tear film but also to secondary hypo‐secretion. Increase of commensal bacteria and their products may have a certain role in this process although a real infection does not usually occur. Conclusion Events in obstructive MGD which share hyper‐keratinisation as a starting point, interact via different pathways that may form vicious circles and eventually lead to evaporative dry eye and gland atrophy.
New insights into Meibomian gland function from gene expression experiments
Authors: SCHIRRA F , SEITZ B 
Published: September 2009

Abstract Purpose The definitive goal of scientific work is to elucidate connections and understand associated functions. In that respect comprehensive, expression studies using microarrays appear to be supreme instruments. We strived to reveal mechanisms of meibomian gland control by sex steroids. Methods The gene expression of mouse meibomian gland under the influence of sex steroids is being presented based on own work group data along with results from literature work‐up. GeneSifter Software is used for analysis based on z‐score analysis and visualization of affected genes within known KEGG pathways. Results Androgens were activating, for instance, pyruvate metabolism, steroid biosynthesis, regulation of autophagy, PPAR signaling pathway, lipid‐related pathways but down‐regulating immune‐related pathways such as B and T cell receptor or Jak‐STAT signaling pathways. Estrogens mainly influenced genes related to lipid metabolism and immune factors. Conclusion The combination of gene expression microarrays and appropriate analysis software contributed significantly in starting to elucidate information on meibomian gland control.
Reproducibility of optic disc measurements acquired with spectral‐domain optical coherence tomography
Authors: FERRERAS A , CALVO PEREZ P , PAJARIN AB , FOGAGNOLO P , FIGUS M , PABLO LE 
Published: September 2009

Abstract Purpose To compare the reproducibility of peripapillary retinal nerve fiber layer (RNFL) measurements of 2 optical coherence tomography (OCT) systems. Methods Fifty‐seven healthy individuals were prospectively selected. Only one eye was randomly chosen. All participants had intraocular pressure less than 21 mmHg and normal standard automated perimetry. Peripapillary RNFL thicknesses were measured with the Cirrus (Carl Zeiss Meditec, Dublin, Ca) and Spectralis (Heidelberg Engineering, Heidelberg, Germany) OCTs. The same operator acquired 3 consecutive series of scans. Left eye data were converted to a right eye format. Intraclass correlation coefficient (ICC), coefficient of variation (COV), and test‐retest variability were calculated for all parameters. Results Mean age was 58.3±11.3 years. The ICC was higher than 0.92 for all parameters of both OCTs. The COV ranged from 1.8% (average thickness, Spectralis) and 2.5% (average thickness, Cirrus) to 5,8% (nasal inferior segment, Spectralis) and 6.4% (2 o’clock segment, Cirrus). Test‐retest variability was lower than 12.2 µm for Cirrus parameters and lower than 10.9 µm for Spectralis parameters. Conclusion Both OCT systems had similar reproducibility of peripapillary RNFL measurements.
The role of SERPING1 in age related macular degeneration
Authors: LOTERY AJ , ENNIS S , GIBSON J , CREE A , HARRIS C , MORGAN P 
Published: September 2009

Abstract Purpose To evaluate the role of SERPING1 by genetic and functional analysis in a cohort of patients with Age related macular degeneration (AMD) Methods We performed SNP genotyping to assess the role of SERPING1 in AMD. We also analysed other genes known to be associated with AMD and performed a variety of functional analyses. We developed a logistic regression analysis to predict the risk of AMD taking into account genetic and envirnomental risk factors. Results Our logistic regression analysis accounts for 45 % of the risk of developing AMD. Results implicate the SERPING1 gene as being strongly associated with AMD. There is no convincing evidence for involvement of other genes or intergenic variants in LD with SERPING1 at this locus. Conclusion In our cohort SERPING1 is a strong genetic risk factor for AMD. Ongoing functional analyses of SERPING1 will be presented at this meeting.