bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inflammatory optic neuropathies
Authors: BORRUAT FX 
Published: August 2012

AbstractAcute inflammatory optic neuropathy result frequently from a demyelinating disorder, multiple sclerosis being often the underlying pathology. However, the possibility of other causes of inflammatory optic neuropathies should be entertained when the clinical presentation is atypical (for example, massive disc swelling, painless visual loss, bilateral simultaneous optic neuropathy or, relentless progression of visual loss). This presentation will discuss the clinical presentations and differential diagnosis of typical optic neuritis, including Devic’s syndrome (neuromyelitis optica), neuroretinitis, sarcoidosis, acute idiopathic blind spot enlargement, optic perineuritis, Leber’s hereditary optic neuropathy. At the end of the session, participants should be able to recognize the typical and atypical features of optic neuritis.
Optic neuropathy in Devic’s disease: a diagnostic challenge
Authors: VIGHETTO A 
Published: August 2012

AbstractNeuromyelitis optica (Devic’s disease) is a severe inflammatory condition of the central nervous system, affecting the optic nerves and the spinal cord, that is distinct from multiple sclerosis by its pathophysiology and treatment. Serum antibody to aquaporin‐4 (AQP‐4 Ab) is a specific although inconstant biomarker of the condition. It helps also to identify among patients with isolated optic neuritis (ON) those who are at risk to convert to Devic’s disease. AQP4 Ab assessment is becoming routinely ordered in atypical ON. We present here our personal experience of the clinical phenotypes of isolated atypical ON that were associated to positivity for AQP‐4 Ab. Six cases were included. There were 4 females and two males, ranging in age from 24 to 68 (mean: 37.6). Follow up duration varied from 6 months to 9 years. Only one patient showed the prototypical monophasic bilateral simultaneous and non regressive visual loss. In the five other cases, presentation was less suggestive and covered a whole range of phenotypes of atypical ON. Thus, they presented with chronic‐relapsing bilateral ON (3 cases), monophasic acute and remitting unilateral ON (1 case) and monophasic progressive unilateral ON (1 case). The prototypical ON case experienced later on several attacks of myelitis. The five other cases remained monosymptomatic to date but were considered as having a high risk for developing myelitis and were kept on immunosuppressive treatments. In conclusion, the clinical spectrum of AQP4‐Ab‐ associated ON is larger than expected. AQP4‐Ab assay has to be performed in any case of severe or relapsing ON. Diagnosis has therapeutic implications. Long term treatment with immune suppressive agents may both improve or stabilize vision and prevent occurrence of myelitis.
Retinopathies
Authors: BOSCHI A 
Published: August 2012

AbstractPurpose How recognize acquired and hereditary retinal disorders in patient with acute visual loss mimicking an optic neuritis.Methods Presentation of clinical casesResults Optic neuritis can be mimicked by other optic neuropathies, and by anterior segment, choroidal as well as retinal diseases. This is particularly challenging when retinal disorders involved the macula or the peripapillary area, like central serous retinopathy, hereditary retinal disorders, and white dots syndrome. A complete neuro‐ophthalmological examination and a detailed history are mandatory to differentiate optic nerve dysfunction from retinal disorders. Fluorescein angiography, OCT and electrophysiological testing might be relevant for the differential diagnosis particularly in case where the fundus appearance is completely normal.Conclusion Through the presentation of various clinical case the different clinical clue that are helpful to differentiate the acquired and hereditary retinal diseases from optic neuritis will be argue.
Graft rejection in keratoplasty ‐ what are the benefits of systemic immune modulation?
Authors: GRUENERT A 
Published: August 2012

AbstractPurpose Graft rejection is one of the major causes of corneal transplant failure after keratoplasty, especially in case of an ocular or systemic inflammatory disease. To reduce the patient’s immune reaction against the corneal allograft, topical or systemic immunosuppression is a clinical necessity. This talk provides an overview of the benefits of systemic immunosuppression and of its indications.Methods The advantages and disadvantages of the use of systemic immunomodulatory drugs in the prevention of corneal allograft rejection after keratoplasty will be analyzed and demonstrated.Results Various systemic immunomodulatory drugs are available to prevent or to reduce the risk of corneal allograft rejection. The use of systemic immunosuppressive drugs may be limited by side effects.Conclusion Systemic immunosuppression prolongs corneal allograft survival and reduces the risk of graft rejections. While the use of systemic immunosuppressive drugs is beneficial in the perioperative stage, the long‐term‐use is restricted to high‐risk settings.
Graft rejection in keratoplasty ‐ is there a place for topical immune modulation?
Authors: PLEYER U 
Published: August 2012

AbstractTopical corticosteroids, although effective in the treatment of ocular immune‐mediated diseases, are well known for their ocular side‐effects. Not surprisingly, a variety of alternative immunomodulatory agents have been tested for topical use including cyclosporin A (CsA), mycophenolate mofetil (MMF), tacrolimus (FK506), rapamycin (sirolimus) and leflunomide. Local application bears the possibility to avoid the severe side‐effects of systemic therapy. The effect of topical therapy is naturally restricted to local immune response mechanisms, such as antigen presentation by Langerhans and dendritic cells. Moreover, many immunomodulatory agents (e.g. CsA) are lipophilic and thus have low water solubility and penetrate insufficiently intra‐ocularly, often being stored in the lipophilic corneal epithelial barrier. Therefore, the therapeutical success is limited for intra‐ocular immune‐mediated diseases like anterior uveitis. However, a multitude of strategies have been introduced to circumvent these problems including complexing substances such as cyclodextrins (CDs) and liposomes. In the prevention and treatment of transplant rejection after keratoplasty, many attempts to introduce topical immunomodulatory therapy have failed; on the other hand, further therapeutic options not primarily expected are being evaluated today such as treatment of severe keratoconjunctivitis sicca. In our own studies, we investigated the pharmacokinetics of topical treatment with different agents including MMF and evaluated the efficacy of topical treatment in animal models for uveitis and keratoplasty. Taken together, topical immunomodulatory therapy will not replace systemic therapy but further treatment options can be expected.
Immune modulatory effects of gene therapy to corneal grafts
Authors: FUCHSLUGER T 
Published: August 2012

AbstractPurpose To provide an overview of immune modulatory effects of gene therapeutival aproaches to corneal allografting.Methods The immune reactions caused by corneal allografting will be summarized. Gene therapeutical approaches will be presented, e.g. after transduction of epithelial cells with anti‐apoptotic p35 in the mouse model.Results Transduction with p35 leads to a reduced immune response. Further insight into the immune modulatory effects will be presented.Conclusion Anti‐apoptotic gene transfer leads to a reduced immune response in corneal transplantation. This might offer a way to increase success rate after transplantation of a corneal allograft.
Definition and investigative techniques in advanced glaucoma
Authors: ZEYEN T 
Published: August 2012

AbstractAccording to Hodapp’s criteria for visual field (VF) scoring, advanced glaucoma can be defined as having a VF mean deviation index (MD) < ‐12 dB. With those VF defects, the optic disc cupping is usually very distinct. Advanced glaucoma can also be defined on the basis of patient’s skills to perform daily activities. Functional tests are usually more useful than structural parameters to follow‐up patients with advanced glaucoma. An overview of the available investigative techniques in advanced glaucoma will be provided.
Treatment options in advanced disease
Authors: BRON A 
Published: August 2012

AbstractGlaucoma is still the second cause of blindness worldwide. One of the main reasons is that since glaucoma is a symptom‐free disease, at least 50% of glaucoma patients are not aware of their disease. Therefore it is not uncommon to see at the consultation advanced glaucoma cases even in the Western world. The management of these advanced cases is very challenging because if at best the treatment can stop the loss of retinal ganglion cells (RGCs) while lowering intraocular pressure (IOP), it will not prevent from the natural age‐related loss of RGCs. Therefore many of these patients will go blind even with a “successful” treatment. The modalities of the treatment are controversial because when surgery is indicated, the fear of the so‐called whipe‐out syndrome is well known among glaucoma surgeons. Recent papers have highlighted that this complication may occur but may be at a lower rate that previously thought. In any case the treatment has to be customised according to the life‐expectancy of the patient, the local and systemic tolerance of IOP‐lowering drugs and the status of the other eye. A fair information given to the patients by the ophthalmologist is probably at least important that the suggested treatments for a given patient.
Differential diagnosis of advanced glaucoma
Authors: HOLDER GE 
Published: August 2012

AbstractPurpose To discuss the value of electrophysiological investigation in the diagnosis of visual pathway disease with particular reference to glaucoma.Methods Standardised ISCEV electrophysiological recordings to incorporate full‐field and pattern electroretinography and visual evoked potentials.Results A case based presentation will be used to illustrate how appropriate electrophysiological investigation can be used to reach a diagnosis. The correct diagnosis will be discussed in some patients in whom an initial diagnosis of glaucoma was incorrectly made.Conclusion The findings in patients with glaucoma are not diagnostic. Appropriate electrophysiological testing can usually reach a correct diagnosis when glaucoma is suspected but not present.
Protective role of steroids on mouse primary RPE cells under hypoxic stress
Authors: BEUERMAN R , CHEW J , WEON SR , BARATHI VA 
Published: August 2012

AbstractPurpose Angiogenesis is a clinically critical aspect of the pathogenesis of many retinal neovascular diseases. Triamcinolone acetonide (TA) is an important anti‐angiogenic and anti‐inflammatory agent. This study has evaluated the effect of TA on the expression of pigment epithelium derived factor (PEDF), thrombospondin‐1 (TSP‐1) and vascular endothelial growth factor A (VEGF‐A) in cultured mouse RPE cells under hypoxic stress.Methods Primary cultures of mouse RPE cells were grown in culture to passage 2‐3 and were then subjected to hypoxic stress. TA (50µg/ml) was used to determine the steroid effect under normoxic (95% air/5 % carbon dioxide) and hypoxic (95% nitrogen/5% carbon dioxide) conditions. Hypoxia was continued for 48 hrs with and without TA. Cells were harvested at 0, 24 and 48 hours and both RNA and protein were extracted. Real Time PCR was used to analyze expression levels of PEDF, TSP‐1 and VEGF‐A. The expression pattern of PEDF, TSP‐1 and VEGF‐A in the presence of TA were quantifie.Results After 24 hours of hypoxia, mRNA expression levels of both PEDF and TSP‐1 were down‐regulated by 2‐fold. Hypoxic stress for 48 hours, resulted in 2.2‐fold down‐regulation of PEDF and a stronger down‐regulation of TSP‐1 of 3.4‐fold. VEGF‐A transcripts levels, on the other hand, showed an opposite response to hypoxic stress, an up‐regulation of 1.9‐fold at 24 hours and 2.7‐fold increase at 48 hours. Hypoxic RPE cells, when exposed to TA, led to the rapid recovery of PEDF and TSP‐1 transcripts at 24 hours after the initiation of hypoxia. VEGF‐A mRNA expression rebounded to control levels in TA treated hypoxic cells. Western blots showed that TSP‐1 protein levels correlated with the PCR results. TA significantly induced the expression of TSP‐1 protein in hypoxic cells, and the strongest expression was at 48 hours.Conclusion The results suggests that TA has a protective effect on PEDF and TSP‐1 levels, and on the fine balance of PEDF, TSP‐1 and VEGF‐A levels.
R‐Ras in retinal angiogenesis
Authors: UUSITALO‐JÄRVINEN H 
Published: August 2012

AbstractPurpose R‐Ras is a small GTPase belonging to the Ras family of proteins, that regulate cell migration, proliferation and survival. It has been shown to play an important role in vessel maturation. The purpose of this study was to evaluate role of R‐Ras in retinal angiogenesis and vascular stability in oxygen induced retinopathy (OIR) model.Methods Immunohistochemistry, confocal microscopy and qPCR we used to study expression pattern of R‐Ras in mouse retinas. R‐Ras deficient mice were used to study function of R‐Ras during retinal angiogenesis. Retinal vascular permeability was measured using Miles assay where Evans blue (EB) dye is injected into circulation whereafter amount of albumin bound EB in retinas is quantified by spectrophotometer.Results R‐Ras is expressed in retinal vessels during developmental angiogenesis as well as during pathological angiogenesis in OIR model. In R‐Ras deficient mice retinal angiogenesis was enhanced in OIR model compared to wt mice. Furthermore, retinal vascular permeability was significantly enhanced in R‐Ras mice compared to wt mice in OIR model suggesting that R‐Ras can effectively stabilize unstable retinal vessels and reduce the leakiness.Conclusion R‐Ras provides potentially a very interesting new therapeutic target for the treatment of neo‐vascular eye diseases.
Surgical skills among European students
Authors: CREUZOT C 
Published: August 2012

AbstractPurpose To assess surgical skills of European students at the end of their trainingMethods A questionnaire was given to all the students who passed the exam at the end of EBO examination in may 2011. The questions were about the duration of the training program, the beginning of surgical training, the number of different procedures performed by the students like intravitreal injections, lid surgeries, refractive and cataract surgeries. Students were questioned anonymously but they had to precise the country where they have spent their training.Results We collected 150 questionnaires from the 331 students who have passed the exam. The results showed a great heterogeneity among countries with no surgical training during the residency in some countries while some students have performed more than 50 cataract surgeries without any help at the end of their residencies. Most of the countries do not organize a formal surgical level assessment at the end of the training.Conclusion These results showed that the organization of surgical training is different among countries in Europe.
UEMS‐EACCME's new criteria for the accreditation of Live Educational Events (LEEs)
Authors: BARISANI‐ASENBAUER T 
Published: August 2012

AbstractThe criteria set out in its document "The Accreditation of Live Educational Events by the EACCME" (UEMS 2011/30) are a significant change to the standards required for accreditation. The aim is to encourage greater transparency and accountability regarding the financial support of educational activities in the field of healthcare. During the presentation the new criteria and the changes necessary for LEEs will be shown.
A strategy for molecular diagnosis and search for new genes/loci in autosomal dominant retinitis pigmentosa
Authors: MANES G , DHAENENS CM , BOCQUET B , MARQUETTE V , BAUDOIN C , RICHARD AC , HEBRARD M , MEUNIER I , HAMEL C 
Published: August 2012

AbstractPurpose Autosomal dominant retinitis pigmentosa (adRP) affects approximately 1 in 12,000 individuals. To date, 24 adRP genes have been identified accounting theoretically for 44.7% of adRP families; therefore, genetic defects in many patients are yet to be identified. This study was intended to provide information on prevalence of known adRP genes in France and to localize new genes and loci.Methods The 10 most frequently mutated adRP genes (in full for RHO and RDS, in hot spots only for PRPF31, RP1, PRPF8, IMPDH1, NRL, PRPF3, NR2E3 and SNRNP200) were screened by systematic sequencing to determine the causative mutation in a cohort of 232 French families affected by adRP. We also performed a pilot experiment on 12 families by using whole exome sequencing (WES).Results The direct sequencing approach was performed on 232 proband DNAs. A causative mutation was found for 99 families (42.7 %), among which 35 out of 68 (51.5 %) were novel. Among the 133 remaining families with no mutation (57.3 %), 12 probands were subjected to WES. This allowed to identify 7 additional families with a causative mutation.Conclusion The prevalence of the genes was similar to that of the literature for most genes (e.g. RHO with 16 %), but were unexpected for others (e.g. NR2E3 with 3.9 %). The WES approach allowed us to identify a causative gene in 58.3 % of a population previously screened by direct sequencing approach. The 5 remaining families, negative with WES screen, are potentially carrying a mutation in one or more new adRP genes although an intronic mutation cannot be excluded. These 5 families are under active investigation.
Search for the identification of new genes causing autosomal recessive retinitis pigmentosa
Authors: BOCQUET B , MARZOUKA N , HEBRARD M , MANES G , SENECHAL A , BAUDOIN C , MARQUETTE V , MEUNIER I , HAMEL C 
Published: August 2012

AbstractPurpose The molecular diagnosis of autosomal recessive Retinitis Pigmentosa (arRP) is challenging because of the large genetic and clinical heterogeneity of this disease: to date, 36 arRP genes as well as 3 loci have been identified accounting for approximately 60 % of arRP families. Two major genes, USH2A and EYS, are responsible for 13 to 19 % of the cases, the other genes being minority. Here, we developed a strategy to search for new genes/loci causing arRP in a series of consanguineous families.Methods Inbred families were genotyped using microsatellite markers specific for USH2A and EYS genes. Families resulting from this first screening were analyzed using 250K SNP microarrays with TASE software (Transmitted Allele Search Engine). Known genes in homozygous regions were PCR/sequenced. Whole Exome Sequencing is running for a few families.Results A total of 44 inbred families were analyzed. Among them, 14 (32 %) were fully or partly homozygous for EYS or USH2A markers. We selected 16/30 of the remaining families for SNPs genotyping and homozygosity mapping. We found the causative mutation in 7 families (43 %) in a known gene (RP1, RLBP1, NR2E3, CNGB1, IMPG2, PDE6A) while in 6 others sequencing of known genes in homozygous regions is still ongoing. For the 3 remaining families, potentially new loci were found (in chromosomes 3, 10 and 21) for which the results of whole exome sequencing is being analysed.Conclusion About 43 % of the tested consanguineous families had a positive molecular diagnosis and a candidate gene approach is ongoing for the 3 loci.
Detection of a novel premature stop codon in the OPA1 gene in autosomal dominant optic atrophy
Authors: OLDAK M , FEDEROWICZ A , SZULBORSKI K , WIERZBOWSKA J , KOSINSKA J , PIOSKI R , SZAFLIK JP , SZAFLIK J 
Published: August 2012

AbstractPurpose Autosomal dominant optic atrophy (ADOA) is a genetically heterogeneous disease, with OPA1, OPA4, and OPA5 representing the main ADOA loci. The aim of the study was to identify genetic etiology of inherited optic neuropathy in a Polish family.Methods We report on a 2‐generation Polish family with ADOA in which nine family members are affected. MRI and detailed ophthalmological examination with visual field and electrophysiological testing were performed. DNA was obtained from blood samples and linkage to known ADOA loci as well as sequencing of 29 OPA1 exons were conducted. Amplified fragments were analyzed on an automatic DNA sequencer.Results MRI and ophthalmological examination confirmed the diagnosis of bilateral optic neuropathy. Pattern visual evoked potentials (PVEP) presented delayed P100 wave latency, reduced N75/P100 amplitude and abnormal morphology of waves. Pedigree analysis demonstrated a dominant mode of inheritance. Linkage studies allowed the exclusion of OPA4 and OPA5 loci but revealed linkage to the major OPA1 locus in the investigated family. Sequencing of the OPA1 gene identified a novel C‐to‐T transiton in exon 2 prediciting a premature stop codon (Q31X). The mutation co‐segratated with the phenotype in this family. No other alteration was found in the OPA1 gene.Conclusion Occurrence of the premature termination codon at the beginning of the transcript strongly suggest that ADOA in the investigated family is a consequence of OPA1 haploinsufficiency. The novel variant broadens the spectrum of the reported OPA1 mutations causing ADOA.
Light flicker and oxygen saturation in diabetes
Authors: HAMMER M , HELLER T , JENTSCH S , MANDECA A , SCHWEITZER D , MüLLER UA 
Published: August 2012

AbstractPurpose To evaluate the retinal vessel oxygen saturation and its change upon flicker stimulation in patients with diabetic retinopathy.Methods Dual wavelength oximetry was performed in 41 diabetic patients (65±12.3 years) with mild non‐proliferative though proliferative diabetic retinopathy (DR) and 12 healthy controls (61.3±6.2). In a second study, oximetry and vessel diameter (central retinal artery and vein equivalents, CRAE and CRVE respectively) readings were taken before and 90 s after onset of flicker light stimulus in 18 patients with non‐proliferative diabetic retinopathy (62.2±8.3 years) and 20 controls (71.2±7.5 years).Results The venous oxygen saturation was increased in diabetic patients with the severity of the retinopathy: Controls 63±5%, mild non‐proliferative DR 69±7%, moderate non‐proliferative DR 70±5%, severe non‐proliferative DR, 75±5%, and proliferative DR 75±8%. Flicker light increased CRAE, CRVE, and venous SO2 by 1.42%±3.72%, 2.80%*±2.70%, and 2.03%*±2.43% in the patients as well as 4.98%*±6.23%, 8.94%*±5.26%, and 4.20%*±3.71% in the controls (*: p<0.05). This increase was significantly higher in the controls vs. patients for all parameters (t‐test, p<0.05). The arterial SO2 remained unchanged in both groups. After adjustment for the subject’s age, the increase of the venous SO2 correlated significantly (p=0.035) with that of the CRAE in the controls but not in the diabetics.Conclusion Retinal blood flow regulation and oxygen supply seem to be impaired in DR. As a key player in blood flow regulation, the vascular endothelium may be involved. Subsequent micro‐vascular alterations (occlusions and obliterations in the capillary bead, formation of arterio‐venous shunts) may result in a deficient oxygen supply to the retina.
Commercial interest