bluuebunny/crossref_metadata_2025_split huggingface dataset:
Combined OCT retinal nerve fibre layer analysis and VEP in neuro‐ophthalmic disease
Authors: GOOD P 
Published: November 2010

Abstract Purpose Ocular Coherence Tomography (OCT) has become a valuable tool in assessing retinal nerve fibre layer thickness (RNFL) in Patients with optic nerve disease. This study is designed to compare RNFL thickness n with Visual Evoked Cortical Potentials (VECP)in patients with known optic nerve disease and comparing these to a group of patients with primary open angle glaucoma (POAG). Methods Twenty Patients (37 eyes) with clinically determined optic nerve disease underwent pattern reversal VECP and also OCT using a Spectralis OCT system. Assessment of global and segmental RNFL was made. Six Patients were diagnosed as Dominant Optic atrophy, 3 with Lebers Optic Neuropathy (LHON), 6 with Nutritional amblyopia, 3 with Anterior Ischaemic Optic Neuropathy (AION), and 2 with Demyelinating disease. These Patients were also compared to a group of 10 patients (20 eyes) with Primary Open Angle Glaucoma POAG. Results Pattern reversal VECP were abnormal in 32/37 eyes (86%): 26/32 (81%) of these being of reduced amplitude, and 20/32 (62%) being delayed. Amongst the patients with POAG only 4/20 eyes (20%) had abnormal VECP, and none were delayed. Thinning of the RNFL occurred in 36/37 eyes (97%) with optic nerve disease; 24 (65%) had global thinning, and the remainder segmental thinning only. All of the eyes with POAG had RNFL thinning but only 6/20 eyes (30%) had global thinning. Bipolar cell thinning of the central retina was noted in 6 eyes with optic nerve disease. Conclusion OCT is a valuable tool in the assessment of patients with optic nerve disease. Thinning of the RNFL was a more consistent finding than delay of the VECP in optic nerve disease, and a combination of VECP and OCT is helpful in the differential diagnosis of low tension glaucoma and optic nerve disease.
Exploring new strategies to record and analyse clinical electroretinograms
Authors: LACHAPELLE P , GAUVIN M , LAPORTE S , LINA JM , LITTLE JM , RACINE J , DORFMAN A 
Published: November 2010

Abstract Purpose Investigate if the combination of time‐frequency domain analysis and ERG dipole rotation reveals hidden features of the normal ERG that could be instrumental in the interpretation of nearly extinguished ERG responses. Methods Analyses were conducted on photopic ERGs (Photopic Hills: PH) obtained from normal subjects (n=75) and patients (n=65) affected with various retinopathies. A Discrete Wavelet Transform (DWT) was done on each ERGs and key descriptors (Holder exponent and wavelet coefficient maxima) were calculated. Dipole rotation was obtained by combining 11 gaze positions (0, 8, 16, 24, 32 and 40 degrees nasal or temporal to center) with 4 electrode locations [corneal (CE), lower lid (LL), external (EC) and internal canthi (IC)]. Results The Holder exponent follows a parabola, while some of the local wavelet maxima seem to follow a PH‐like like distribution (b‐wave and OPs) or a logistic growth function (a‐wave). In still recordable pathological ERGs, the wavelet maxima matched that found in normal ERGs evoked at low stimulus intensities while in nearly extinguished ERGs (<10% of normal) the wavelet coefficients were significantly lower. Irrespective of the direction of gaze, there was little variation in DTL ERGs. EC ERGs were the only ones to reverse in polarity (seen 5 degrees nasal to fixation in nasal to temporal shift). Conclusion The parameters obtained with the DWT offers useful and reproducible tools to help identify subtle features of residual ERGs and therefore should allow for a more accurate quantification of low‐voltage ERGs responses. Finally, our results suggest that varying the gaze and electrode positions would represent a valuable addition to the recording of clinical ERGs. Funded by NSERC.
The use of the mfERG in the clinic
Authors: PALMOWSKI A 
Published: November 2010

Abstract Purpose This presentation is to give a brief overview on the application of the multifocal electroretinogram (mf‐ERG) in the clinic. Methods The use of m‐sequences as a stimulus sequence allows a high resolution topographic mapping of sensory function. The mf‐ERG can be readily applied to detect outer retinal dysfunction in the area of the macula. Different retinal layers contribute to the waveform of the mf‐ERG. This results in typical changes of the waveform, when these different layers are dysfunct. Results MF‐ERG examples are shown, that demonstrate how this knowledge can be useful in the clinical evaluation of patients. Conclusion The mf‐ERG is a helpful tool in the clinical evalutation of patients.
Electrophysiology of childhood retinal dystrophies
Authors: BROWN M , CHANDNA A , HAGAN R 
Published: November 2010

Abstract Purpose To provide a systematic approach to the diagnosis of causes of impaired vision in childhood with particular reference to the role of electrophysiology in retinal dystrophies Methods We have examined the contribution Electrodiagnostic Testing (EDT) can make in determining or confirming a diagnosis. Results We have set out a systematic approach to diagnosis of both early and late onset disorders, differentiating between retinal and non‐retinal causes. Signs, symptoms, inheritance patterns and test results are tabulated against specific disorders showing the contribution EDT can make. Recent example case studies are also presented. Conclusion Electrodiagnostic testing is of particular value in identifying and differentiating causes of poor vision where there may not be clear retinal signs in the early stages such as Leber’s congenital amaurosis, CSNB, cone dystrophy and albinism. A further role is in the differentiation of retinal from post‐retinal causes.
Phenotypic variability in association with mutation in RDS/peripherin
Authors: HOLDER GE , TRAN HV , ROBSON AG , TAN MH , RAMSDEN S , BLACK GCM , WEBSTER AR , MOORE AT 
Published: November 2010

Abstract Purpose To report the clinical and electrophysiological findings associated with autosomal dominant maculopathy caused by mutations in Rds/peripherin. Methods Fifty three individuals with autosomal dominant macular dystrophy and a confirmed molecular diagnosis of Rds/peripherin mutation were ascertained between January 2002 and December 2008. International‐standard pattern and full‐field electroretinograms (PERG; ERG) were performed in 38 cases. Electro‐oculograms (EOG) were performed in 25 cases. Results Fourteen different mutations were identified in the Rds/peripherin gene; 4 of which were novel. Twenty four (45%) patients had the common p.Arg172 Trp allele. The mean age at the time of first symptoms and at diagnosis was 35.0+/‐ 2.4 and 47.1 +/‐ 1.5 years old [SEM] respectively. Mean LogMAR visual acuity at presentation was 0.5+/‐ 0.08 [SEM]. Fundus phenotypes included central atrophy (19 cases), pattern dystrophy (10 cases), maculopathy with flecks (5 cases), and adult vitellifom dystrophy (4 cases). Pattern ERG P50 reduction was seen in 75 of 76 eyes; the majority having undetectable or residual responses, including some cases with preserved visual acuity. ERG ranged from normal to severe reduction in both cone and rod driven responses and were not predictable either from the fundus appearance or from the specific mutation in Rds/peripherin; on addition, marked intra‐familial variation could be noted. Conclusion Mutations in the Rds/peripherin gene result in a wide variety of fundus and functional phenotypes. The same mutation can result in profoundly different phenotypes, even within family members.
Rituximab for the treatment of refractory ocular inflammation
Authors: JAKOB E , PELLEGRIN L , SCHMIDT‐BACHER A , SCHWENGER V , MAX R , LORENZ H , MACKENSEN F 
Published: November 2010

Abstract Purpose To report the efficacy of rituximab in the treatment of ocular inflammation refractory to standard immunosuppressive therapy. Methods We retrospectively reviewed medical records of 9 patients with Wegener Granulomatosis, Behçet disease, Rheumatoid arthritis (RA) and Juvenile idiopathic arthritis (JIA) whose disease was refractory to standard immunosuppressive therapy. We recorded main outcome measures such as changes in best corrected visual acuity, patient’s complaints, intraocular or orbital inflammation, concomitant immunosuppressive therapy. All patients had been treated with at least 3 different immunosuppressive agents and corticosteroids at 1 mg/Kg/d. Rituximab was administered intravenously 1000 mg, in 2 doses, 2 weeks apart, in combination with standard treatment, repeated until ocular inflammation was controlled. Results 6 patients were affected of Wegener disease (4 orbital granulomatosis, 1 Tolosa‐Hunt syndrome and 1 scleritis), 1 patient had scleritis and intermediate uveitis due to Behçet disease and 2 patients had iridocyclitis (RA and JIA). Over a mean follow‐up of 19 months, patients underwent a mean of 4 infusions. All patients had either stabilization or improvement of ocular inflammation. BCVA improved in 4 patients and was stable in other 4. According to European league of arthritis and rheumatism (EULAR), 8 patients were in remission and one had response to treatment. 8 patients were able to taper the immunosuppressive therapy and corticosteroids <7.5mg. Conclusion Rituximab was effective and showed a beneficial response to treatment including induction of clinical remission of inflammation in most patients. It may be a rescue treatment in patients who are refractory to standard therapy.
Commercial interest
Pathologic epithelial and anterior corneal nerve morphology in congenital aniridic keratopathy
Authors: FAGERHOLM P , EDEN U , LAGALI N 
Published: November 2010

Abstract Purpose To document corneal morphology in Swedish families with congenital aniridia. Methods Detailed ophthalmic examinations were conducted in a number of affected and unaffected members. Digital slit lamp photography, anterior segment optical coherence tomography (ASOCT) and in‐vivo confocal microscopy (IVCM) examinations were performed bilaterally to document corneal morphology. Results Affected family members presented with different stages of aniridic keratopathy, with a corneal appearance varying from totally transparent to opaque and highly vascularised. Increased corneal thickness in affected members, particularly those with severe keratopathy, was noted by ASOCT. By IVCM, opaque corneas were characterized by active vessels and dense inflammatory cell infiltration. In corneas with milder keratopathy, pathologic epithelial findings included epithelial pleomorphism, focal epithelial opacities, and an absence of limbal epithelial crypts and focal stromal projections at the limbus. Nerves of the anterior cornea exhibited several distinct features, including an unusually close association of subbasal nerves with epithelial cells, an unusually high subbasal nerve density with highly branched nerves, and a prominent whorl region. Additionally, abnormally dense and tortuous anterior stromal nerves, attached to stromal keratocytes, were noted in unaffected members. Conclusion Altered epithelial morphology and a vigorous innervation of the anterior cornea were the most pronounced corneal findings in family members with milder forms of aniridic keratopathy. Further findings confirmed the known increase in corneal thickness and limbal stem cell abnormality in aniridia.
Dry eye and human tear lipid compositional, conformational and functional relationships using spectroscopy
Authors: BORCHMAN D , FOULKS GN , YAPPERT MC 
Published: November 2010

Abstract Purpose Knowledge of the relationships among composition, conformation and function of tear film lipids could facilitate the development of therapies to alleviate symptoms related to meibomian gland dysfunction (MGD) and to diagnose the disease. Toward this goal, we used spectroscopic approaches to assess tear lipid composition and conformation relationships with age, sex and meibomian gland dysfunction. Methods Spectra of meibum from 41 patients diagnosed with MGD (Md) and 27 normal donors (Mn) were acquired. Results 1H‐NMR spectra showed cholesterol esters were found to decrease by 21% with MGD. The number of double bonds/ester increased with age and MGD which indirectly relates to tear film stability. With age, the amount of CH2 groups increased twice as much as the C=C moieties and the C=C/CH2 and CH3/CH2 ratios were related to lipid order and indirectly related to meibum delivery. With the use of MALDI‐TOF MS, we quantified and identified lipid components in Mn and Md such as cholesterol, hydrocarbons and wax esters with a sensitivity of 9 pmoles for each analyte. Sixty‐nine of the 189 resolved peaks were unique to Md spectra compared to Mn spectra and were not due to waxes. Extra peaks in Md spectra may arise from increased lipid synthesis, bacteria or cellular debris. Conclusion It is reasonable that as the lipids become more ordered and more viscous with Md, less lipid flows out of the meibomian gland orifice and more casual lipid is present on the lid margin. The age‐ and disease‐related changes in the physical and chemical characteristics of meibum lipids suggest that the C=C/CH2 and CH3/CH2 ratios may be more important than quantity in relation to tear film stability.
Central corneal thickness in North Africa
Authors: LAZREG S , KAMMOUN H 
Published: November 2010

Abstract Purpose Central corneal thickness (CCT) measure is a critical point before refractive surgery. It is well known that surgery can not be performed under a thickness of 500 microns. Methods Pentacam pachymetry was performed in refractive surgery centers in Algeria , Tunisia and Morroco on 1615 eyes of patients originating from North Africa. Results Most of the patients (70%) were aged from 20 to 35 years old.Thirty eight percent(38%) had a CCT between 450 and 500 microns,40% between 500 and 550 microns. Patients with Keratoconus were excluded from this study Conclusion Publications on this subject being very poor, a study on a larger number of patients has to be conducted in order to confirm the relationship between CCT and ethnic origin.
Matrix metalloproteinase 14 overexpression reduces corneal scarring
Authors: GALIACY S , FOURNIE P , MASSOUDI D , ANCELE E , QUINTYN JC , ERRAUD A , RAYMOND‐LETRON I , ROLLING F , MALECAZE F 
Published: November 2010

Abstract Purpose Corneal wound healing is an everyday preoccupation for ophthalmologists.Corneal transparency depends on the scarring quality after a traumatic corneal wound, but also after refractive corneal surgery. Cicatrisation and fibrosis formation involve epithelial/fibroblast interactions via paracrin signals inducing extracellular matrix (ECM) remodelling. The major event is fibroblast activation and differentiation into myofibroblasts. These cells have a key role in the fibrotic response. They acquire contractile properties, and synthetise a new ECM, mainly composed of type III collagen. This scar tissue is less organised than the regular stroma, thus explaining corneal opacity. ECM remodelling is a critical step which aims to digest the excess of ECM by proteolysis of type III collagen. MMP14 is a membrane‐bound fibrillar collagenase from the Matrix Metalloprotease family. We hypothesised that its overexpression in the corneal stroma during wound repair will increase ECM remodelling and thus prevent collagen deposition in the scar tissue. Methods We developed an adeno‐associated virus‐based vector expressing murine MMP14 under the control of the CMV promoter. We evaluated MMP14 overexpression after viral transfection in a murine model of corneal wound healing. We characterised several parameters: clinical observation, histology, and wound healing markers. Results Our preliminary results showed a decreased in oedema and corneal scar formation, associated with a decreased expression of alpha smooth actin and type III collagen. Conclusion These results represent proof of concept that gene transfer of MMP14 can reduce scar formation, which could have therapeutic applications after corneal trauma.
Conjunctival infection by Streptomyces spp: clinical case and follow up
Authors: PORTERO A , HERRERAS JM , SECO DE GUZMAN E 
Published: November 2010

Abstract Purpose Streptomyces is the largest genus of Actinobacteria belonging to Streptomycetaceae family, a group of ubiquitous Gram‐positive bacteria, which are part of the soil saprophyte flora and involved in environmental organic matter decomposition. Over 500 species of Streptomyces bacteria have been described. It is well known its capacity of production of antibiotics, antifungals and immunomodulating drugs (e.g., Streptomycin, Vancomycin, Chloramphenicol, Amphotericin B, Tetracycline, Tacrolimus and Bleomycin). Methods a 4‐year‐old male who suffered an accidental plant prick on temporal bulbar conjunctiva of the right eye during an Indian trip. He was only diagnosed of a hyposphagma by an ophthalmologist. From that time, it was progressively forming a granulomatous lesion on the affected area. He was treated with several broad‐spectrum antibiotic eye‐drops for about three months without improvement. Hence, it was decided to perform a conjunctival biopsy. The sample was sent to the National Institute of Microbiology to be processed. The bacteriological results concluded that it was a colony of the genus Streptomyces spp. After getting the antibiogram, he started with oral and topic trimetropim‐sulfamethoxazole. Results Three months after starting that regimen, the lesion completely disappeared. He is currently under regular controls being off of any treatments. Conclusion Streptomyces spp systemic infection is very rare, and eye involvement, exceptional. In fact there are not cases with conjunctival involvement published in literature. Mostly patients systemically infected by these bacteria present certain degree of compromised immune system. Thus, cases in immunocompetent patients are, at least, exceptional.
The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice
Authors: GERDIN AK 
Published: November 2010

Abstract Purpose The Sanger Mouse Genetics Programme (MGP) aims to make a significant impact on our understanding of the function of genes and their role in disease by generating, characterising and archiving in the order of 200 lines of knockout mice per year, including 40 lines as part of the EUMODIC consortium. The phenotyping screens employed include a wide range of assays relevant to key disease areas including diabetes, obesity, hearing and vision disorders, immune disorders, pain and motor function. The data generated by the primary screen will help to further the understanding of the interplay of genes and disease and will provide an insight into the various underlying biological pathways. All phenotyping data and biological resources generated by the programme are openly available to the scientific community. Methods Eye morphology is routinely assessed using the Slit Lamp and Ophthalmoscope and images are collected when abnormalities are identified. Expression profiling via the lacZ reporter gene is performed for each mutant line in adults and at E14.5. Results To date, the eye screen has been performed on over 180 mutant lines. Here we report examples of novel eye‐related abnormalities identified by the eye morphology, embryonic lethality and/or expression screens performed by the Sanger MGP. We will present how to identify a potentially interesting mouse mutant on our database and discuss the impact our knock‐out mouse models might have on your research.
The German Mouse Clinic: recent findings from the Eye Screen
Authors: PUK O , FAVOR J , SUN M , GRAW J 
Published: November 2010

Abstract Purpose The purpose of this study was the large‐scale screening of different mouse mutant lines in order to detect novel models for eye disorders. Methods The eyes of the mouse mutants were analyzed by slit lamp biomicroscopy, funduscopy, laser interference biometry, optokinetic drum, and histology. Results In the past 12 months, 46 mouse mutant lines were investigated in the primary Eye Screen of the German Mouse Clinic (GMC). These included Csemp1 and Aey69 that exhibited irregular eye development. All tested mice of the mutant line Csemp1 unexpectedly showed white fundus flecks and significantly reduced axial eye lengths. Moreover, we additionally found strong opacities in a least a portion of the Csemp1 mutant lenses. Aey69 mice are severely microphthalmic due to a yet undefined ENU‐induced mutation. The rudimentary eyes completely lack ocular structures as iris or lens. Further significant irregularities in fat metabolism, immunology, and behaviour were detected in the GMC‐wide primary screen. Linkage studies mapped the mutated site on chromosome 3 within a 0.78 Mb spanning region between the flanking microsatellite markers D3Mit188 and D3Mit76. Among the 34 positional candidate genes, Tnrc4 (elav‐like family member 3) and Selenbp1 (selenium binding protein 1) are expressed in the eye. Sequencing studies in order to detect the causative mutation of Aey69 are in process. Conclusion Two novel mouse models for microphthalmia were detected in the primary Eye Screen of the GMC. These mutant lines will provide further insights into molecular mechanisms behind this kind of eye disease.
Retinal blood vessel phenotyping in mice
Authors: RUBERTE J 
Published: November 2010

Abstract Purpose In the retina there is a compromise between optimal visual function and optimal oxygenation. Retinal blood vessels have a relative sparse distribution and their size is small in order to minimise optical interference with the light path. Hence, the blood flow volume in the retina is relatively low. This fact, together with the high oxygen consumption of the retinal tissue, could facilitate the development of retinal hypoxia and subsequent retinopathy when the vascular bed is altered. Thus, the analysis of retinal blood vessel must be a crucial step during retinal phenotyping in mutant mice. Methods Different technologies and methods have been used in order to analyze structure, distribution and function of retinal blood vessels, among others: retinal digest preparations, retinal whole mount immunohistochemistry, transmission and scanning electron microscopy, fluorescein and Mercox vascular injections and scanner laser ophthalmoscopy. Results In our laboratory, morphological and topographic alterations of retinal blood vessels in Bmi1 and Sirt1 knockout mice, as well as in IGF‐1 and IL‐10 transgenic mice, have been observed and documented Conclusion The mouse genome is fully sequenced. 99% of the coding genes present in man are also present in mouse. Moreover, the majority of disease‐related genes have been conserved since the emergence of the bony fishes about 400 million years ago. These facts and the development during the last two decades of an extensive toolbox to study the functional effects of genetic variation in mice, make them the ideal model organism for the study of human eye diseases. In this sense, morphological and functional analyses of retinal blood vessel in mutant mice could help to understand vascular gene‐based mechanisms that lead to retinopathy