bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation in Pxdn encoding peroxidasin causes small lenses and kinky tails in the mouse
Authors: GRAW J , WAGNER S , FUCHS H , HRABE DE ANGELIS M 
Published: December 2011

AbstractPurpose The mouse mutant KTA48 was identified within the recessive Munich ENU Project among offspring of treated C3HeB/FeJ mice. It is characterized by a kinky tail, white belly spot and small dull eyes.Methods Linkage analysis was performed using SNP‐based technology and microsatellite markers. Sequence analysis, histology and in‐situ hybridization were performed according to standard techniques.Results The genome‐wide linkage analysis mapped the KTA48 mutation on chromosome 12; positional candidate gene analysis detected a mutation in the Pxdn gene (encoding peroxidasin) co‐segregating with the mutation. The Pxdn‐mRNA of the KTA48 mutants contains a T‐>A mutation at pos. 3816 (T3816A) creating a new Alw26I restriction site; the mutation converts the Cys at codon 1272 into a stop codon (Cys1272X). The mutation co‐segregates with the phenotype in the breeding colony; it is not present in several wild‐type strains. The lens phenotype is slightly variable. During an early stage of eye development (E12.5), Pxdn is expressed in the posterior part of the lens and in the central part of the retina without obvious changes. At the end of embryonic development (E17.5), we observed small lenses outside the optical axis and rupture of the lens capsule. Later, microphagia is accompanied by deformed cornea and multilayered retina. At P21, the small lens is attached to the cornea, and in some cases, the eye is completely disorganized..Conclusion The recessive mouse mutation KTA48 is caused by a premature stop codon of the Pxdn gene. The function of Peroxidasin is still unknown; there is no mutation known neither in humans nor in mice.
Analysis of locus 2q13 in Ecuadorian family with keratoconus
Authors: NOWAK DM , KAROLAK JA , KUBIAK J , MOLINARI A , PITARQUE JA , BEJJANI BA , GAJECKA M 
Published: December 2011

AbstractPurpose Keratoconus (KTCN) is described as a non‐inflammatory thinning and anterior protrusion of the central cornea which results in altered refractive powers, and loss of visual acuity. The etiology of KTCN remains unknown. Both genetic and environmental factors are associated with the disorder. The purpose of this study was to identify novel genetic factors involved in familial form of KTCN by extensive analysis of multigenerational Ecuadorian family.Methods A total of 22 individuals from KTCN‐019 family were included into this study. Genomic DNA samples of all members of KTCN‐019 family were genotyped with highly polymorphic microsatellite markers. After linkage was established, two positional and functional candidate genes, IL1A and IL1B, were examined with polymerase chain reaction amplification, and direct sequencing of all exons, and intron‐exon boundaries was performed.Results The disease susceptibility locus was mapped on 2q13 chromosome in KTCN‐019 family. Sequencing analysis of the candidate genes, IL1A and IL1B have revealed numerous alterations in coding and non‐coding sequences of both genes including several novel single nucleotide polymorphisms. No mutations segregated with KTCN phenotype have been identified.Conclusion Analysis of IL1A and IL1B genes revealed no mutations segregating with affected phenotype in large Ecuadorian family, indicating that other genes are involved in KTCN causation in this family.
Towards Xeno‐free Differentiation of RPE Cells
Authors: ILMARINEN T , VAAJASAARI H , JUUTI‐UUSITALO K , NARKILAHTI S , SUURONEN R , UUSITALO H , SKOTTMAN H 
Published: December 2011

AbstractPurpose Stem cell therapy is a potential approach for the replacement of degenerated retinal pigment epithelial (RPE) cells essential for vision. For therapeutical use, the differentiation of RPE cells from human pluripotent stem cells (hPSC) should be performed in a culture environment fulfilling clinical quality requirements. For example the use of xeno‐products should be avoided as this bears the danger of interspecies transfer of viruses and incorporation of immunogenic molecules.Results Animal‐derived substances, such as fetal bovine serum, mouse fibroblasts, and Matrigel are widely used in the differentiation and culture of hPSC‐RPE cells. Recently, some protocols utilizing human feeders in the culture of pluripotent cells and small molecules in the differentiation process have been published. In our studies, we have also successfully differentiated pigmented cells from hPSC lines without the use of animal cells or serum. These cells show characteristics of RPE cells such as morphology, polarity, expression of genes and proteins typical for RPE cells, and phagocytosis of photoreceptor outer segments.Conclusion Tissue engineering holds a great promise for treating retinal degenerative diseases. To date, RPE‐like cells have been successfully produced from hPSCs and lately the protocols have been developed further towards xeno‐free and defined culture systems enabling clinical grade cell production.
Location of visual field defect and optic disc assessment by confocal scanning laser ophthalmoscope in early normal tension glaucoma
Authors: JUNG KI , PARK CK 
Published: December 2011

AbstractPurpose To compare topographic optic disc measurements in patients with central 10‐degree and outer arcuate visual field (VF) defects in early normal tension glaucoma (NTG)Methods Early NTG patients with a mean deviation of ‐10 dB or better in 24‐2 Humphrey VF analyzer, and glaucomatous optic disc were included in this retrospective study. Patients were divided into central VF defect group (CFD) with VF defect in 10‐degree radius in total deviation plot and peripheral VF defect group (PFD) with outer arcuate VF defect. Global and sectoral optic disc stereometric parameters were obtained with the Heidelberg Retina Tomograph (HRT) III and compared between CFD and PFD group. Mean deviation (MD) of central and nasal peripheral 12 points in mean deviation plot compared between superior and inferior hemifields in both groups.Results Mean deviation and pattern standard deviation values showed no significant difference between 27 patients in the CFD group and 29 patients in the PFD group. The cup area, cup disc area ratio was significantly decreased in CFD group compared to PFD group only in inferotemporal sector, not in other sectoral parameters and global parameters of HRT. The MD of VF in the CFD group was significantly decreased in superior central 6 points (‐9.23±8.12 dB) compared to inferior central 6 points (‐3.36±4.18 dB). The MD of VF in the PFD group showed no significant difference between superior (‐5.24±6.06 dB) and inferior (‐8.10±6.42 dB) nasal peripheral 6 points.Conclusion The change of optic disc in early NTG was more localized in the CFD group than the PFD group and central VF defect was more prominent in the superior hemifield.
Increased hydrostatic pressure does not cause loss of retinal ganglion cell viability in human organotypic retinal cultures
Authors: SANDERSON J , RHODES J , OSBORNE A , BROADWAY D 
Published: December 2011

AbstractPurpose Raised intraocular pressure is the major risk factor for glaucoma. It is therefore vitally important to understand how increased pressure impacts on retinal ganglion cells (RGC) viability. These experiments investigate the effect of “pure” hydrostatic pressure on RGC survival in human organotypic retinal cultures (HORCs).Methods In order to achieve this, we have designed and built a highly sophisticated controlled environment pressure chamber to expose cells to increased hydrostatic pressure while maintaining constancy of other parameters.Results Exposure of HORCs to constant (60mmHg) or fluctuating (0‐100 mmHg; 1 cycle/min) pressure for 24 or 48h resulted in no loss of structural integrity compared to controls (n=4). No significant changes in levels of RGC markers (THY‐1 mRNA or NeuN) or LDH release were observed (n=4; p>0.05). RGC‐5 cells, used for comparison, showed no change in cell viability (MTS; n=4), LDH release (n=3) or apoptosis (TUNEL; n=3) with pressure at 24 or 72h (p>0.05). Oxygen/glucose deprivation in HORCs reduced RGC number (~40%) at 24h (n=9; p<0.05) and increased LDH release (~80%; n=10; p<0.05). p38 and JNK activation remained unchanged in HORCs exposed to pressure (n=3; p>0.05) whereas OGD increased activation of both (n=3; p<0.05).Conclusion These data clearly show that increased hydrostatic pressure on its own is insufficient to cause loss of cell viability, suggesting that direct hydrostatic pressure is not responsible for degeneration of RGCs occurring in glaucoma.
Closed angle glaucoma and myopia as an adverse effect of topiramate
Authors: SATUE M , HERRERO LATORRE R , DE LA MATA G , FERNANDEZ‐PEREZ S , GARCIA MARTIN E , POLO V 
Published: December 2011

AbstractPurpose To present a case report of a patient under topiramate treatment for a depression syndrome, with bilateral acute and closed angle glaucoma as drug adverse effectsMethods Thirty‐seven‐year‐old male developed bilateral severe blurred vision. Exploration showed bilateral acute myopia and closed anterior chambers. Intraocular pressures were 48 mmHg in both eyes, with shallow anterior chambers, and closed angles. His refraction was ‐6.25 diopters in right eye, and ‐8,50 in left eye. During ophthalmic exploration he developed eye pain and corneal edema.Results All symptoms and clinical findings, including myopia and pain, resolved completely upon discontinuation of topiramate and administration of antiglaucoma drugs.Conclusion Topiramate may cause acute bilateral angle‐closure glaucoma , so blurry vision, eye pain or altered image perception in treated subjects should be carefully explored by an ophthalmologist. Acute angle closure may result in important intraocular pressure elevation and irreversible optic nerve damage, causing permanent visual loss; so treatment must be withdrawn immediately when alarm symptoms appear.
Endothelin‐ 1 (ET‐1) plasma levels in multiple sclerosis (MS) patients
Authors: JANKOWSKA‐LECH I , BIK Z , WOLINSKA E , TERELAK‐BORYS B , GRABSKA‐LIBEREK I , PALASIK W 
Published: December 2011

AbstractPurpose The aim of this study was to estimate endothelin‐ 1 (ET‐1) plasma level in multiple sclerosis patients.Methods Material was 49 patients (13 males, 36 females, mean age: 40 year, range: 22‐ 62 years) suffering from multiple sclerosis according to McDonalds rule. The healthy controls consisted of 3 males and 28 females (mean age: 38 year, range: 19‐ 61 years). The protocol was approved by the Ethical Committee of the Postgraduate Medical Education Centre in Warsaw, Poland. Endothelin‐ 1 (ET‐1) plasma levels were determined by ELISA Test (Immuno‐ Biological Laboratories. Co, Japan with tenderness : 8 fmol/ml). Statistical analysis were performed using the U‐ Mann‐ Withney test.Results Endothelin‐ 1 (ET‐1) plasma levels were significantly decreased in MS patients when compared to age matched controls (P= 0.0075).Conclusion Statistically significant ET‐1 plasma levels difference between examined patients and controls indicates, that vascular dysregulation may exists in MS patients. The outcomes will be discussed.
Relationship of intraocular pressure with risk factors of metabolic syndrome
Authors: LEE SU , LEE SJ , LEE JE , LEE JS 
Published: December 2011

AbstractPurpose To evaluate the relationship of intraocular pressure with risk factors of metabolic syndrome in healthy Korean populationMethods A total of 30893 healthy participants underwent automated multi‐phasic test including tonometry, fundus photography, body mass index measurement and metabolic syndrome risk variables such as systolic and diastolic blood pressure, total cholesterol, high density lipoprotein, triglyceride and fasting blood glucose. The subjects were divided into six age groups by decades ranging from 20∼29 years to over 70 years. The relationship between IOP and metabolic syndrome risk variables was examined using multiple regression analysis.Results The mean IOP was 15.5±3.2 mmHg, and was significantly higher in men than in women at 20‐69 years aged groups(p<0.05). IOP was associated with systolic and diastolic blood pressure, total cholesterol, triglyceride, body mass index and fasting blood glucose(p<0.05). Systolic and diastolic blood pressure, total cholesterol, triglyceride and fasting blood glucose values had significantly positive relation with IOP (p<0.05), and high density lipoprotein had significantly negative relation. In analysis, intraocular pressure had significant relation with age, gender, systolic and diastolic blood pressure, total cholesterol, triglyceride and fasting blood glucose, but there was no significant relation with body mass index and high density lipoprotein(p>0.05).Conclusion As increased IOP was associated with metabolic syndrome risk variables, it is necessary to control increased total cholesterol, triglyceride, and blood glucose levels in the normal population to prevent or control the IOP elevation.
The relationship between corneal biomechanical properties and intraocular pressure
Authors: OGBUEHI K , ALMUBRAD T 
Published: December 2011

AbstractPurpose To determine the relationship between the biomechanical properties and the intraocular pressure (IOP) measured with the Goldmann applanation Tonometer (GAT) and a noncontact tonometer (NCT). Repeatability of corneal biomechanical properties was also assessed.Methods One randomly selected eye of 106 healthy subjects was assessed using the Ocular Response Analyzer (ORA), a noncontact tonometer, an ultrasound pachymeter and the Goldmann tonometer, on two separate days. The order of measurement was randomized between the ORA and the NCT, followed by measurements of central corneal thickness (CCT) and IOP with the GAT. The main outcome measures were corneal hysteresis (CH), corneal resistance factor (CRF), central corneal thickness (CCT) & IOP.Results The Pearson correlation coefficients between the GAT IOP on one hand and CH, CRF & CCT on the other, respectively, were: 0.323(P < 0.0001), 0.579 (p < 0.0001), & 0.421 (P < 0.0001) in session 1. The corresponding values for the NCT were: 0.565 (P < 0.0001), 0.772 (P < 0.0001) & 0.681 (P < 0.0001) respectively. The highest correlation coefficients obtained (with both tonometers) when IOP was plot against ‘CCT + CRF’, were: 0.562 (P<0.001) and 0.788 (P<0.0001), for the GAT and the NCT, respectively in session 1. Repeatability indices in the first session were ±2.91mmHg, ±2.51mmHg, and ±0.01μm, respectively, for CH, CRF, & CCT. Reproducibility indices were ±3.11mmHg, ±2.78mmHg and ±0.03μm for CH, CRF and CCT, respectively.Conclusion CH, CRF, and CCT are all significantly correlated with IOP, more so when the IOP is measured with a NCT. When plot together, CCT &CRF were best able to explain the variation of IOP. All three corneal biomechanical properties showed good repeatability and reproducibility indices.
Characterization of neuroepithelial progenitor cells in patients with proliferative vitreoretinopathy
Authors: MOE MC , JOHNSEN EO , FROEN R , ALBERT R , BERTA A , PETROVSKI G , NICOLAISSEN B 
Published: December 2011

AbstractPurpose Proliferative vitreoretinopathy (PVR) is an important cause of retinal diseases such as retinal detachment (RD). In lower vertebrates, retinal damage is known to activate neuroepithelial stem cells (NSCs) in the ciliary margin in an attempt to regenerate the neuroretina. Cells expressing some markers of NSCs are also present in the retina and the ciliary body epithelium (CB) of the adult human eye. We hypothesized that if NSCs exist in the adult human eye, they should be activated by PVR formation.Methods Cells isolated from vitreous samples (n=25) obtained during vitrectomies for RD were directly fixed or cultured in a stem cell‐promoting medium, and compared to cells isolated from post mortem CB and peripheral retina (PR) using sphere‐forming assay, immunohistochemistry, molecular biology and electron microscopy. Markers of NSCs were also studied in whole retinal control/PVR sections obtained from enucleations.Results Spheres formed in 7/10 vitreous samples from patients with PVR compared to 2/15 samples from patients with no known PVR. These spheres stained for markers of NSCs both in vivo and after repetitive passages. Their mRNA and immunohistochemical profile resembled sphere‐forming cells from the PR with only a few characteristics of CB cells. In situ characterization of the CB revealed that although there were higher numbers of dividing cells in PVR eyes than in controls, we did not detect markers of NSCs. Interestingly, markers of NSCs were evident around PR cysts with some evidence of activation following PVR formation.Conclusion A population of NSC‐like cells are found in the vitreous of patients with PVR. These cells seem to be originated from the retina itself and not the CB.
Transferrin and prealbumin: indicators of PVR and risk of recurrence in retinal detachment
Authors: ARNDT C , RAMONT L , DUCASSE ALAIN , BONNAY G 
Published: December 2011

AbstractPurpose Proliferative vitreoretinopathy (PVR) is the leading cause of failure in retinal detachment surgery. Increased levels of transferrine have been found in proliferative vitreoretinopathy. A relationship between the level of prealbumin and the functional outcome has been previously reported. The purpose of this prospective study was to look for a link between the vitreous levels and preoperative PVR or post‐operative outcome.Methods The vitreous samples of patients with epiretinal membrane and rhegmatogenous retinal detachment (RD) were obtained at the initial phase of surgery without previous intraocular infusion. The levels of transferrine (TF) and prealbumin (PA) were determined in all cases. The functional (visual acuity) and anatomical outcome (OCT mean foveal thickness, RD recurrence) was assessed.Results The vitreous levels of TF (193 mg/l vs. 44mg/l; p=0.038) and PA(115 mg/l vs. 15mg/l; p=0.0002) were significantly higher in the RD group(n=23) than in the macular surgery group(n=35). In eyes with RD, the intravitreal levels of TF in eyes with PVR A and B were higher than in eyes with PVR C (121 mg/l vs.356 mg/l; p=0,0233). In eyes with PA > 200 mg/l, 2 cases of RD recurrence were observed, when PA < 200 mg, no recurrence was observed (p=0.0296).Conclusion Increased prealbumin levels in the vitreous appear to correlate with an increased recurrence rate of retinal detachment. The predictive value of prealbumin for the occurrence of postoperative proliferative vitreoretinopathy in patients undergoing retinal detachment surgery remains to be demonstrated and requires a prospective multicenter study.
Acute intraocular pressure after intravitreal injections, what is the mecanism?
Authors: DOT C , EL CHEHAB H , LE CORRE A , RACT‐MADOUX G , COSTE O , SALVANY P , MOURGUES G , SWALDUZ B , GIRAUD JM 
Published: December 2011

AbstractPurpose To evaluate the mechanism of acute intraocular hypertension after intravitreal injections (IVI) of anti‐VEGF therapies.Methods A prospective study was performed to evaluate the IOP increase immediately after IVI of 0,05ml ranibizumab in 50 patients. We have also studied the correlation between IOP immediately after IVI and axial length, then with lens status. Moreover we have analysed the anterior chamber anatomic changes (anterior chamber volume and irido corneal angle), measures were taken before and 5mn after IVI by scheimpflug camera from Oculyzer® (Alcon).Results The IOP peak immediately after IVI was higher than 45 mmHg in 67,3% of patients. It was transient, decreasing after 15mn and returning to baseline in all patient after 45 mn. We found no statistically significant difference between pseudophakic eyes (n=30) and phakic eyes (n=20, p=0.80). No correlation was found between the axial length and the IOP spike (r=0.042, p=0,85). The mean change for the anterior chamber volume (ACV) is mild (0,33 mm3).The ACV increased in pseudophakic eyes (+15,64 mm3, +7,7%), but decreased in the phakic eyes (‐7,24 mm3, ‐4,4%). The mean change for irido corneal angle (ICA) is not significant (‐1,61°), it decreases in phakic eyes (‐2,97°, ‐7,2%) versus a quite neutral effect in pseudophakic eyes (+0,78°, + 1,5%).Conclusion The IOP spike is not correlated either with axial lengh or with lens status. ACV and ICA variations are different according to the lens status but remains mild. These results enhance the importance of the scleral biomechanical properties, and highlight an unpredictable peak. This could be an argument to propose a systematic prophylactic hypotensive treatment before IVI.
Principles of Genetic Counseling
Authors: HALL G 
Published: December 2011

AbstractPurpose To present the genetic counselling needs of families with inherited eye disease and examine the ethical and emotional issues around genetic testingMethods The presentation will focus on the psychosocial impact of inherited eye disease and the dilemmas in counselling and testing using case discussions and data from qualitative studies.Results Genetic counselling is a process of communication to provide information about a genetic condition, inheritance and support decision making and adjustment in families. Genetic testing for inherited eye diseases is rapidly advancing with massive improvements in high throughput molecular testing. While this can allow accurate diagnosis and information, the issues of genetic heterogeneity, variable penetrance and overlapping phenotypes mean that the provision of accurate information particularly challenging for genetic eye disease. These scientific advances have also led to increased patient demand and expectations. Complex cases presenting to the multi‐disciplinary genetic eye clinic in Manchester will be presented to highlight the needs of families requesting genetic counselling including approaches to complex situations such as pre‐symptomatic testing, childhood testing and pre‐natal diagnosis. Qualitative data involving in‐depth interviews with families with inherited retinal dystrophy describes the burden of living with the risk of blindness and decision making around genetic tests. Research evidence also demonstrates that families feel their needs are not met by current services, suggesting a need for improvements in evidenced‐based practice.Conclusion Families with inherited eye disease have complex genetic counselling needs requiring multidisciplinary services to provide accurate diagnosis, information, genetic testing, decision‐making, support and follow‐up.
Goblet cells in the conjunctival lid wiper elevation provide a built‐in lubrication system
Authors: KNOP N , KORB DR , BLACKIE CA , KNOP E 
Published: December 2011

AbstractPurpose The lid wiper is an epithelial elevation at the posterior lid border apposed to the globe that distributes the thin pre‐ocular tear film during the blink. To minimize the high risk of friction it can be assumed that it is provided with an advanced lubrication system.Methods The structure of the lid wiper epithelium is explained together with an overview of historical reports. Theoretical models of lubrication at the lid‐bulbus interface are discussed.Results A thickened epithelium was described early but the immediate functional implications for the distribution of the preocular tear film over the bulbar surface were noticed only much later. More recently “Lid wiper epitheliopathy” (LWE), a respective vital stainable epithelial alteration, was reported as first sign of tear film deficiency and increased friction in dry eye patients. The structure of the lid wiper was generally assumed to consist of a squamous non‐cornified epithelium, however in recent investigations we could show that it has in fact a conjunctival structure with goblet cells and goblet cell crypts that secrete mucins of different types.Conclusion The conjunctival structure of the lid wiper for distribution of the thin pre‐ocular tear film with goblet cells and goblet cell crypts implies the presence of a thick mucin‐water gel at the surface. This provides the structural pre‐requisite for the assumption of a hydrodynamic type of lubrication and can explain how the lid margin continuously travels over the bulbar ocular surface without wounding it. Support: DFG KN 317‐11