bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene screening at the 13q32 keratoconus locus
Authors: GAJECKA M 
Published: September 2009

Abstract Purpose Keratoconus (KTCN) is a non‐inflammatory thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and altered visual acuity. We ascertained eighteen autosomal dominant multigenerational KTCN families from Ecuador and identified a novel locus on 13q32.1‐q32.3 in the large family KTCN‐014. Here we present sequencing results of candidate keratoconus genes localized to 13q32. Methods The keratoconus locus contains 23 known transcripts. Sixteen of the genes were chosen for the evaluation. Genes are screened by standard techniques using 48 genomic DNA samples from individuals from family KTCN‐014 and selected affected and unaffected individuals from other Ecuadorian families. Coding exons and intron‐exon boundaries of the genes are evaluated. Results Sequencing analysis of genes MBNL2, FARP1, ZIC5, ZIC2, FGF14, EFNB2, RNF113B, DOCK9, PHGDHL1, VGCNL1, ERCG5 and ING1 have not revealed mutations segregated with the disease phenotype. Several novel single nucleotide polymorphisms were identified. Other candidate genes on 13q32.1‐q32.3 including COL4A1 and COL4A2 are currently being screened for a possible role in the pathogenesis of KTCN. Conclusion To date, mutation analyses of candidate genes have not identified sequence alterations segregating with the keratoconus phenotype in this population.
Until what age should glaucoma be monitored and/or treated? A novel index that facilitates clinical decision making
Authors: JANSONIUS N , WESSELINK C , STOUTENBEEK R 
Published: September 2009

Abstract Purpose To calculate for which combinations of age and perimetric disease stage (mean deviation [MD]) treated and untreated glaucoma patients are unlikely to become blind during lifetime. Methods The probability of dying without blindness was calculated using the age and gender adjusted life expectancy values from the Statistics Netherlands and the progression rates of treated and untreated glaucoma patients from the Early Manifest Glaucoma Trial and the Groningen Longitudinal Glaucoma Study. Absence of blindness was defined as an MD better than ‐20 dB. Because it is difficult ‐ or even impossible – to determine someone's individual life expectancy and rate of progression accurately, patients were assumed to reach the 90th percentile of the adjusted life expectancy and to progress with the 90th percentile of the rate of progression, leaving an a priori probability of becoming blind during lifetime of 2.5%. Results If MD+0.8*age, with MD in dB and age in years, is larger than 59, treated male patients were unlikely to become blind during lifetime. For untreated male patients the cut‐off value was 66, and for treated and untreated female patients 61 and 68 respectively. Conclusion With this novel index, MD+0.8*age, the intensity of glaucoma monitoring and/or treatment can be reduced well‐founded in the ageing patient. The index can be applied to either the worse or the better eye, depending on what is considered acceptable or possible given limited resources.
RTVue Fourier‐domain OCT: reproducibility of RNFLT and macular thickness measurements
Authors: GARAS A , KOTHY P , HOLLO G 
Published: September 2009

Abstract Purpose To evaluate the reproducibility of peripapillary retinal nerve fiber layer thickness (RNFLT) and macular thickness (MT) measurements with the RTVue‐100 Fourier‐domain optical coherence tomography, and to determine the influence of pupil dilation, patients’ experience in examinations and severity of glaucoma. Methods One eye of 14 normal subjects, 11 patients with moderate, 12 patients with severe glaucoma and 40 screening trial participants were imaged 5 times on the same day. For the hospital‐based patients, the measurement series was repeated after pupil dilation and 3 months later. Results For the RNFLT and the MT parameters, intrasession intraclass correlation coefficient (ICC) varied between 93.9 and 99.0%, intrasession coefficient of variation (CV) between 1.95 and 5.69 %, and intratest variability between 3.11 and 9.13 µm. Most thickness values, all intrasession CV and intratest variability values and the signal strength index remained unchanged after pupil dilation. Most intrasession CV values increased significantly with increasing disease severity. Patients’ experience in imaging examinations had no influence on intrasession CV. Intratest variability and intrasession CV represented 79.1 to 98.6 % and 77.1 to 95.0 % of test‐retest variability and intervisit CV, respectively. Conclusion Reproducibility of RNFLT and MT measurement with the RTVue‐100 OCT are satisfactory for clinical purposes both in normals and glaucoma patients. Pupil dilation and patients’ experience in imaging examinations do not influence the reproducibility of the measurements clinically significantly.
Commercial interest
Retinal nerve fiber layer thickness and central corneal thickness in ocular hypertensive patients and healthy subjects
Authors: BRON AM , MUSELIER A , BEYNAT J , CREUZOT C 
Published: September 2009

Abstract Purpose To establish the correlation between central corneal thickness (CCT) and retinal nerve fiber layer (RNFL) thickness in ocular hypertensive patients and healthy subjects. Methods We prospectively collected charts of healthy subjects and ocular hypertensive (OHT) patients in one academic center between 2007 and 2008. OHT patients were defined by two measurements of intraocular pressure superior to 21mmHg without treatment, open angle in gonioscopy, normal appearing optic nerve head and normal visual field test Standard Automated Perimetry (SAP SITA) and Frequency Doubling Technique (FDT). Every patient underwent a standard clinical examination including optic nerve head examination, intraocular pressure, CCT measurement by ultrasonic (US) and anterior segment OCT pachymetry, visual field testing (SAP and FDT), RNFL thickness by scanning laser polarimetry (GDX‐VCC) and optical coherence tomography (OCT). Results Eighty healthy subjects and 60 OHT patients were included. A correlation between US CCT and OCT CCT was found in both groups (r2=0.85 and r2= 0.87, p<0.001). There was no significant difference (p>0.15) in GDX‐VCC and OCT RNFL thickness in both groups. In controls there was no correlation of any RNFL thickness measurement with the CCT. In OHT patients, the US CCT was weakly correlated with the average TSNIT evaluated by GDX‐VCC (r2= 0.04, p<0.02). Conclusion This study did not show any relevant correlation between the RNFL thickness evaluated by GDX‐VCC and the US CCT in healthy individuals and in OHT patients with a normal FDT.
Studying electrophysiological characteristics in children with congenital sensory nystagmus‐ case presentations
Authors: BRECELJ J , STIRN‐KRANJC B 
Published: September 2009

Abstract Purpose In classification of sensory congenital nystagmus (CN) is important to recognize the underlying retinal or visual pathway dysfunction. The aim was to distinguish ERGs and VEPs charcteristics which may identify among variety of disorders associated with sensory CN. Methods In infants and small children that were ophthalmologically classified as sensory CN were ERGs and VEPs recorded simultaneously in the same session. ERGs were detected without dilated pupils and with skin electrodes. Under darkened laboratory conditions were ERGs recorded to white (cone/rod mediated response) and dim blue (rod mediated response) flash and under lighten room were ERGs recorded to white, red and 30 Hz flicker flash (cone mediated responses). VEPs were recorded from three occipital electrodes to flash and onset stimulation. Results Cases with abnormal ERGs showed: in Leber’s congenital amaurosis were undetectable both rod and cone mediated responses from early infancy; in cone‐rod retinal dystrophy abnormal cone and rod mediated responses progressed in time; in achromatopsia abnormal cone mediated responses did not progress in time; in congenital stationary night blindness a negative ERG did not progress in time. Cases with abnormal VEPs showed: in ocular albinism VEP contralateral asymmetry; in achiasmia VEP ipsilateral asymmetry; in severe optic nerve hypoplasia flash VEP was non‐recordable, while in moderate optic nerve hypoplasia flash and pattern onset VEP findings might not correlate with clinic findings. Conclusion Sensory CN is associated with a variety of disorders affecting the retina, optic nerve, chiasm and electrophysiology may characterize retinal or postretinal pathway dysfunction and therefore help in early diagnosis.
Foveal serous detachment in juvenile idiopathic arthritis(JIA)‐associated uveitis
Authors: LIANG F , TERRADA C , DUCOS DE LAHITTE G , QUARTIER P , LEHOANG P , BODAGHI B 
Published: September 2009

Abstract Purpose To characterize the foveal serous detachment(FSD) in JIA‐associated uveitis.To investigate the correlation with visual acuity (VA) and ocular inflammation. Methods 9 children having FSD with JIA‐associated uveitis were identified between 2005‐2007.All were treated with periocular steroid injection and systemic anti‐TNF α antibody.Outcome measures included VA,ocular inflammation quantified by laser flare photometry and the macular profile analyzed by OCT. Results All patients(8 female,1 male) had bilateral uveitis and 6 had bilateral SRD.All patients had risk factors to develop severe anterior uveitis.The mean age at the onset of uveitis and at the onset of FSD was 4.1±1.1years and 7.6±2.2years.At the onset of FSD 6 children were refractory to methotrexate and systemic corticosteroids.It had a high frequency of ocular complications:87% posterior synechiae, 80% cataract, 60% band keratopathy and 20% glaucoma.FSD appeared isolated in 21% of eyes,it was associated with diffuse macular edema in 46% and with cystoid macular edema in 12% of cases.Before therapeutic intensification,the mean VA was 0.46logMAR,the mean foveal thickness(FT) was 261μm.At 6 months follow‐up:VA increased to 0.22logMAR(p=0.017),the reduction of flare was 41%(p=0.003),the mean FT was 229μm(p=0.59).At 12 months follow‐up,the mean VA was 0.19logMAR(p=0.0029),the mean FT was 196μm(p=0.009),only 1 eye showed persistant SRD. Conclusion FSD is a late‐stage complication of sustained and insufficiently treated anterior uveitis in JIA‐associated uveitis and must be considered for the long‐term visual outcome.An agressive immunomodulatory strategy is mandatory in order to achieve strict control of ocular inflammation and improve the visual function.
Correlation between Goldmann applanation tonometry and rebound tonometry in relation to central corneal thickness
Authors: BRANDTNER H , HITZL W , STROHMAIER C , ABRI S , WINTERSTELLER CH , HOHENSINN M , RUCKHOFER J , STOIBER J , GRABNER G , REITSAMER HA 
Published: September 2009

Abstract Purpose To investigate the influence of central corneal thickness (CCT) on the ICare Rebound Tonometer (RBT) measurements and to verify the correlation of RBT and Goldmann applanation tonometry (GAT). Methods The current study contains data from 230 eyes from a mixed population of the outpatient departments of the University Eye Clinic Salzburg. The mean‐age was 67.19 years (SD +/‐ 11.87). The study was explained to the patients and their informed consent was obtained. The IOP was measured with both the GAT and the ICare‐tonometer; in addition the CCT was determined with standard pachymetry. Results We were able to show a good linear correlation between GAT and RBT readings (r=0.9). Over the whole range of IOP we could observe a good correlation of both tonometers with the tendency of a slight overestimation of the IOP in RBT readings. CCT has a stronger impact on the results of RBT than on the results of GAT. In thin corneas RBT tends to underestimate the GAT readings, whereas in thick corneas RBT overestimates the GAT readings. Although the correlation factor between GAT and RBT is high, significant differences can be seen in the Bland‐Altman analysis. Only in 15% of all measurements no differences in results between the two methods were observed. In 26% the difference was 1 mmHg, in 23% 2 mmHg, in 19% 3 mmHg and in 16% 4 or more mmHg. The analysis also revealed a correlation of r=‐0.4 between CCT and the difference in results of the two methods. Conclusion In cases where an exact measurement of the IOP is important RBT would not be the first choice. Also formulas to correct for the dependency of RBT on CCT would improve the results only marginally.
A new storage medium for pre‐cut donor tissue for DSAEK in eye bank
Authors: POCOBELLI A , AMATO D , DUCOLI P 
Published: September 2009

Abstract Purpose To evaluate the efficacy of a new storage medium able to avoid swelling the donor cornea before the microkeratome cut in eye bank routine setting Methods The Eusol‐C (Alchimia s.r.l.,Italy) storage medium and a modified storage medium (only for experimental use,Alchimia) were used to store two different sets of donor corneas (n=12).Before the microkeratome cut,corneas were stored in Eusol‐C (n=6) while the controlateral donor corneas were stored in the modified medium (M.M.) (n=6).Donor lenticules were created with a full pass of microkeratome blade which resulted in a posterior lamella and a free cap.Endothelial cell density,cellular viability and corneal thickness by AS‐OCT (VisanteTM,Carl Zeiss) were evaluated before dissection,4,24 and 48 hours after dissection. Results Endothelial cell density and cellular viability were well preserved during the time course in both storage medium.Pachymetry values, after the microkeratome cut did not show significant variations during the time course.Conversely significant differences were found between the two groups (p<0,05).Average corneal thickness immediately before dissection was 659+/‐38,08 microns and 537,83+/‐24,78 microns in Eusol‐C and in M.M. respectively.Immediately after dissection, thickness of the residual posterior bed was 247,83+44,13 (Eusol‐C)and 143,6+24,96(M.M.)microns.After 4, 24 and 48 hours was 238,5+41; 238,83+42,73 and 232,83+39,01 microns respectively in Eusol‐C.Instead in M.M. after 4, 24 and 48 hours was 141,2+24,92;145,6+22,35 and 157,2+30,40 microns respectively.The M.M. was able to reduce,on the controlateral corneas,the thickness of 100 microns in average. Conclusion The M.M.was capable of preventing corneal tissue swelling during storage of pre‐cut tissue for DSAEK.
Effect of corneal collagen crosslinking on corneal sensitivity, tear function and innervation: a clinical and confocal microscopic study
Authors: KONTADAKIS GA , KYMIONIS G , PORTALIOU D , DIAKONIS V , PALLIKARIS IG 
Published: September 2009

Abstract Purpose To evaluate the effect of corneal collagen crosslinking (CXL) on corneal sensitivity, innervation and tear function. Methods We conducted esthesiometry, Shirmer’s II test, tear break up time measurements and confocal microscopy to evaluate innervation in 32 eyes with keratoconus preoperatively, and one, three and six months post CXL. Results Sensitivity decreased significantly the first postoperative month (p<0.05) with restoration until the sixth. Tear break up time and Shirmer’s II scores remained unaffected (p>0.05). Denervation appeared one month postoperatively and began retrieving by the third month. Conclusion The main outcome of this study is that corneal innervation and sensitivity is significantly affected by crosslinking, but preoperative sensitivity is restored to the preoperative levels after six months.
On the dependence of outflow facility on Intraocular pressure in the living human eye.
Authors: KARYOTAKIS NG , GINIS H , LIMNOPOULOU A , DASTIRIDOU AI , TSILIMBARIS M , PALLIKARIS IG 
Published: September 2009

Abstract Purpose The change of outflow facility is determined by the value of intraocular pressure (IOP) possibly due to changes in the angle of the anterior chamber, the trabecular meshwork and the Schlemm’s canal. The purpose of this study was to determine the relationship between outflow facility and IOP (especially for elevated values of IOPs) in living human eyes. Methods Thirteen eyes from thirteen cataract patients (6 men and 7 women, aged 61 years, sd 15) were enrolled in the study. The study was approved by the Institutional Review Board. The measurements were performed before cataract surgery, using an intraoperative invasive manometric device. The pressure‐time decay was recorded in order to calculate the outflow facility at different values of IOP. An appropriate mathematical model was developed to calculate outflow facility based on the IOP‐time curve and the ocular rigidity of each eye under measurement. Results The average outflow facility coefficient was 0.213 (SD 0.097) μl/min/mmHg. Our data suggest that outflow facility has a non‐linear relationship with IOP, especially in the range of higher IOPs. This non‐linear behavior of outflow facility was approximated with an exponential function. There was no significant statistical correlation (r=0.2377, p=0.4568) with outflow facility and ocular rigidity. Conclusion Outflow facility depends on IOP in a non‐linear manner that indicates a complex relationship between IOP and the geometry of the outflow pathways. In this limited set of measurements, a relationship between the outflow facility (or its non‐linearity) with other parameters could not be established.
IOP evaluation in glaucoma patients after phacoemulsification
Authors: STOJANOVIC N , TSOLAKI F , GOGAKI E , SAKKIAS G , TACHIAOS P 
Published: September 2009

Abstract Purpose To evaluate intraocular pressure in glaucoma patients after cataract surgery with phacoemulsification Methods 107 glaucoma patients underwent phacoemulsification cataract extraction from June 2006 to May 2009. The follow up period was 6 months. No medication was discontinued preoperatively The mean value of preoperative IOP was16,33 mmHg (10‐28mmHg). 41 patients ( 38,3%) were under single medication treatment, 35 (32,7%) were under two medications, 23 (21,5%) were under three and 8 (7,5%) were under four medications. IOP was measured on the 1st day, 1 week, 1, 2, 3 and 6 months postoperatively. If IOP was <25mmHg, no additional medication was given, and if IOP was >25mmHg, acetazolamide was given during the first week and topical medication after that Results Final IOP was <20mmHg without treatment in 50.8% of the patients, 27,6% were under single medication treatment, 17,9% were under two medications, 3,7% were under three medications and none was under four medications Conclusion A reduction of at least one glaucoma medication was observed postoperatively. Cataract extraction with phacoemulsification has a positive influence in postoperative IOP in glaucoma patients and can delay or even avert a possible trabeculectomy.
Functional correlation between retinal sensitivity threshold values of standard automated perimetry in glaucoma
Authors: GUERRI MONCLUS N , PRIETO CALVO E , EGEA ESTOPINAN MC , FERRERAS A , PABLO LE 
Published: September 2009

Abstract Purpose To study the interrelationship among the 52 retinal sensitivity threshold values of the Humphrey visual field analyzer with the 24‐2 Swedish interactive threshold algorithm (SITA) standard strategy in glaucoma patients. Methods Prospective cross‐sectorial study. 104 eyes of 104 patients with diagnosed glaucoma by means of optic disc stereophotographs were evaluated. Each 52 threshold points of the SITA Standard 24.2 program in the standard automated perimetry (SAP) were obtained. The upper and the lower hemifield were studied separately. Pearson correlation coefficients were calculated between each of the mean threshold values at each point of the visual hemifield and the rest of the threshold points. Results Perimetric correlation maps between threshold values in the same hemifield were obtained. Most of the points had moderate and high correlations (r ≥ 0,65) with neighboring points and distant points corresponding to the retinotopic distribution of the retinal nerve fibers. Conclusion There is a functional relationship, in glaucoma patients SAP, between neighboring and distant threshold points in corresponding to the anatomical arrangement of ganglion cells axons. This enables to achieve perimetric patterns of glaucoma defects.
In vivo imaging of microglial cell trafficking
Authors: PAQUES M , SIMONUTTI M , SAHEL J 
Published: September 2009

Abstract Purpose Microglial cells (MCs) are active sensors of neural tissues that are rapidly mobilized upon disruption of homeostasis. OUr goal was to observe in vivo the migration of MCs, which has not been done yet. Methods Following acute laser damage, the behavior of MCs in the retina of adult Cx3cr1gfp/+ and gfp/gfp mice was observed noninvasively using time‐lapse confocal scanning laser ophthalmoscopy. Observation were done at various time‐points up to 8 days after laser damage. Results Focal damage elicite prompt migratory response of MCs within 200 to 400 µm around laser burns. This migratory response was preceded in all case by dendritic reorientation. Convergent and nonconvergent migration were observed. Such migratory activity persisted several days after laser damage. At day 8, the microglia network was restored and microglial locomotion had ceased. Conclusion To our knowledge, this is the first observation of microglial locomotion in vivo. A Morphological evidence of microglial activation starts with dendritic reorganization. Migrating cells were only of the dendritic type (i.e. not ameboid). There appears to be a notable heterogeneity in the locomotor response of MCs. MCs within and around scars remain highly motile and mobile several days after laser damage.
In vivo imaging of retinal inflammation in experimental autoimmune uveoretinitis
Authors: XU H 
Published: September 2009

Abstract Purpose Experimental animal models are essential for us to understand the pathogenesis of human diseases. Posterior uveoretinitis can be modelled in mice with IRBP immunization (i.e. experimental autoimmune uveitis, EAU), whereas a number of mouse models are also available for age‐related macular degeneration (AMD). With the advancement in new technologies, it is now possible to image inflammatory retinal changes in experimental mice in vivo none invasively. The aim of the study is to clinical revisit the traditional retinal inflammation animal models with modern imaging techniques. Methods EAU was induced in C57B/6 mice with IRBP peptide 1‐20. Aged CCL2 knockout mice were used as an AMD model. Retinal inflammatory changes were imaged in vivo non‐invasively using topical endoscopic fundus imaging system and the scanning laser ophthalmoscopy (SLO) system. Results Inflammatory retinal changes in the early stages of EAU were characterised as retinal oedema, vascular sheathing, multiple small retinal infiltrates or large linear retinal infiltrates. “Snow‐ball”‐like vitreous infiltrates were observed in the inferior part of the fundus at the peak stage of EAU. Using SLO autofluorescent (AF)‐macrophages were detected at the peak stages of EAU and were located predominately around inflamed retinal venules. At the late stages of EAU, retinal scars and intraretinal neovascular membranes were observed. In the retina aged CCL2 KO mice, regional retinal atrophy and dursen‐like multiple lesions were observed. Dursen‐like changes were autofluorescent in SLO examination. Ex vivo confocal microscopy indicated that they were not dursen but subretinal lipofuscin‐loaded microglial cells. Conclusion EAU mimics many aspects of human posterior uveoretinitis including retinal vasculitis, multifocal choroiditis. Late stage EAU could be a good model for inflammation induced retinal neovascularisation. CCL2 KO mouse is a model of dry‐AMD.