bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional correlates of abnormally increased annular fundus autofluorescence in different retinal dystrophies
Authors: ROBSON AG , MICHAELIDES M , SAIHAN Z , BIRD AC , FITZKE F , HOLDER GE , MOORE AT , WEBSTER AR 
Published: September 2008

Abstract Purpose To examine the functional significance and stability of annular fundus autofluorescence (AF) abnormalities in patients with different retinal dystrophies. Methods One hundred patients were ascertained who had a parafoveal ring of high density AF. Seventy five had a clinical diagnosis of retinitis pigmentosa (RP) or Usher syndrome with good visual acuity; 20 of 75 had serial AF imaging. Twenty five others included cases of cone or cone‐rod dystrophy (GUCA1A, RPGR, RIMS1) and “cone dystrophy with supernormal rod ERG” (KCNV2). International‐standard full‐field and pattern ERG (PERG) testing was performed. Some patients underwent fine matrix mapping (FMM). Results Results: a) The AF ring radius correlated positively with PERG P50 in non‐syndromic RP (R=0.79, p<0.0005, N=50) and in Usher syndrome (r=0.77, p<0.0005, N=25). The ring encircled areas of preserved photopic function. Serial AF revealed progressive ring constriction in 10 of 20 cases. b) In the 25 patients with cone or cone‐rod dystrophy, AF rings resembled those seen in RP or encircled areas of central atrophy. There was an inverse relationship between P50 and ring size in those with detectable PERGs. High density arcs corresponded with gradients of sensitivity change. There was evidence of AF ring expansion in some cases. Conclusion Conclusions: Parafoveal rings of high density autofluorescence are non‐specific manifestations of retinal dysfunction associated with gradients of sensitivity change. High density rings progressively constrict in a high proportion of patients with RP and good visual acuity. Progressive ring expansion may occur in different forms of cone and cone‐rod dystrophy.
Improving the diagnostic potential of the photopic electroretinogram (ERG) with refined mathematical tools
Authors: LACHAPELLE P , JAUFFRET C , GARON ML , MIKULA M , MYSORE N , RACINE J 
Published: September 2008

Abstract Purpose Examine if the use of refined mathematical tools increases the understanding and diagnostic potential of the photopic ERGs. Methods Analyses were performed on normal and pathological photopic ERGs (background of 30 cd.m‐2; flash intensities ranging from ‐0.8 to 2.84 log cd.sec.m‐2 in 15 steps; n>100). Mathematical instruments included: 1‐ the Continuous Wavelet Transform (CWT)2‐ The Reiman Integrator and 3‐ the Photopic Hill Gaussian:Logistic ratio [GL=Gb/(Gb+Vbmax)]claimed to weight the contribution of the OFF and ON pathways to the photopic ERG. Results 1‐ CWT revealed 3 distinct frequency domains within the 10‐50 msec poststimulus time interval, namely: 20‐40 Hz, 90‐150 Hz and 200‐300 Hz that appeared to be independently modulated by flash intensity and/or pathology. 2‐ Integration of the OPs accurately reconstructed the broadband ERGs (r>0.90), irrespective of CWT. 3‐ In our cohort of RP patients (n=50), the GL ratio was 0.43 ±0.23, compared to 0.60±0.08 in normal (p<.05). Conclusion 1‐CWT dissects the ERG into its primary components, a method that should allow a more accurate quantification of ERG responses. 2‐ Strong evidence supports the concept that the b‐wave results from the integration of the OPs. The value of the integration constant (1 sec) is close to the time constant of the Muller cell membrane suggesting that the latter could be at the origin of this integration. 3‐The broader GL distribution obtained from our RP cohort suggests that in some the OFF retinal pathway is primarily affected while in others the ON is. It remains to be determined if the latter represents two stages of the same disease process or two different disease paths. Supported by CIHR and Réseau Vision.
Erg explorer: a software for post‐processing, analysing, and reporting of electrophysiological data
Authors: STRASSER T , WILKE R , MESSIAS A , ZRENNER E 
Published: September 2008

Abstract Purpose For clinical routine and clinical trials it is important to provide structured, consistent reports of electrophysiological data. Also, there is the need for further processing of raw data. Moreover, the connectivity to different electrophysiological systems is a major requirement. We will present a system that is capable of reading raw data, evaluate and process it, to present it in a graphical report and to make it available for data management systems or statistical software packages. Methods The application is based on Java Enterprise Edition. Algorithms can easily be added by dropping a new plug‐in into the system. Algorithms like FFT, frequency filters, curve fitting, detrending, intensity‐/response‐function, a‐wave slope detection, and SNR estimation are implemented. The application allows a flexible design of reports based on customizable templates. Templates according for ISCEV standards are included. It also allows exporting data into different formats including Excel or CSV. Currently we are providing an interface for the Espion E2 system, interfaces for LKC UTAS and Roland Consult Reti‐port are being developed. Results The use of open source frameworks allows for easy adaptation of new algorithms for post‐processing electrophysiological data, the integration of new standards, outstanding reporting features and interfaces to existing devices or applications. Conclusion The application is successfully used in routine clinical examinations. Further features are also currently being developed, like the integration of additional electrophysiological systems and the implementation of new algorithms, e. g. wavelet analysis and noise estimation. An auxiliary accomplishment may be the establishment of a DICOM standard.
Protection of the photoreceptors in ROP (retinopathy of prematurity)
Authors: FULTON AB , HANSEN RM , AKULA JD , MOSKOWITZ A , HARRIS M 
Published: September 2008

Abstract Purpose Interventions with putative protective effects on the immature photoreceptors are part of the clinical care of preterm infants. In rat models of ROP, the early status of the photoreceptors predicts ROP outcome, and modification of the energy demands of the developing photoreceptors affects ROP outcome. In prematurely born subjects with thoroughly documented newborn care, we studied the relation of photoreceptor status and ROP outcome. Methods Retinal function and vasculature were characterized at pre‐ and post‐term ages. Parameters of phototransduction and of post‐receptor activity were derived from ERG a‐ and b‐waves. The integrated curvature of the arterioles was used to quantify the retinal vasculature. The main newborn interventions, including oxygen limits, were categorized. Results In infancy, the small ERG responses reflected immaturity of the photoreceptors and differed significantly between those who developed ROP and those who did not. The higher the integrated curvature the more severe the ROP. The magnitude of the ERG abnormalities varied significantly with the severity of ROP and integrated curvature. The putatively protective clinical interventions were significantly associated with better photoreceptor function and better ROP outcome. Conclusion Protecting the immature photoreceptors appears to improve ROP outcome. Future interventions that target the photoreceptors may prevent ROP.
Bilateral visual loss and paraplegy in a patient with metastaic carcinoma of stomach
Authors: PAJTLER A , SEGA S , ZGONC V , ROS‐OPASKAR T , HAWLINA M 
Published: September 2008

Abstract Purpose We present a case report of bilateral visual loss and paraplegy in patient with metastatic carcinoma of stomach. Methods 64‐year old male presented with painless visual loss on right eye, and one week later, he was blind on both eyes with no light perception and amaurotic pupils. One year earlier he was diagnosed with primary metastatic carcinoma of stomach and was treated by Xeloda and Docetaxel. Fundi revealed bilateral hyperemic disc oedema. Solu‐Medrol 1 g i.v. for three days had no effect. Results CT and MRI of brain showed no lesion that would explain his visual loss. Scotopic and photopic electroretinography was normal.Visual evoked potentials (VEP) on flash stimulation were nonrecordable. Specific onco‐neurologic antibodies in CSF and serum were negative:anti‐Ri(ANNA‐2),anti‐Yo,anti‐CV2(CRMP5),anti‐amphiphysin,anti‐Mal,anti‐Hu(ANNA‐1),anti‐Ma2(Ta‐). One month after onset of blindness, he had acute neurological deterioration with paresis of left leg and retention of urine which was diagnosed as Brown‐Sequard syndrome. MRI of spinal chord showed intramedular lesion between Th 6‐10. Oligoclonal bands in serum and CSF were identical, indicating systemic inflammation. Serum was sent for testing NMO‐IgG,but results are in process. Patient was restarted on high doses of Solu‐Medrol i.v. Slight improvement of vision was noted after few days of therapy, and flash‐evoked VEP was barely detectable. The discs were no longer swollen and appeared pale. Conclusion This unusual case of bilateral blindness due to optic neuropathy might be linked to atypical presentation of neuromyelitis optica or to paraneoplastic optic neuropathy caused by yet unknown antigen.
Third nerve palsies without pupil involvment can still be surgical
Authors: SKINNER KC , MERRICK CD , HOXHA A , RIZAL E 
Published: September 2008

Abstract Purpose To emphasise the importance of maintaining a high index of suspicion of a surgical cause of a partial third nerve palsy even when pupil is not involved. To highlight an unusual presentation of a pituitary tumour. Methods Case Report Results A 15 year old presented to the emergency department one evening after noticing he had a "droopy eyelid". He reported being under a lot of stress whilst revising for exams and described some occasional mild tension type headaches. Of note two weeks before this presentation he had "fainted" in the school playground, it had felt that this episode required no further investigation at the time. There was no other history ellicited. Also of note was that he denied any diplopia or visual symptoms. On presentation, he had a right sided partial ptosis. Visual acuity was normal. Both eyes were normal. On examintion of the ocular movements he had diplopia on upgaze especially in abduction. He had no past ocular or medical history. Goldmann fields were normal. When he was seen it was noted thet he was over 6 feet tall yet his parents were of average height. On discussing the case with radiologists and paediatricains great emphasis was placed by them on the lack of pupil involvement, it was then assumed therefore that it would be unlikely that there would be any brain lesion. However, he did go on to have an MRI scan the next day which revealed a large pituitary mass which protruded laterally hence the third nerve involvment. As of when this abstract was submitted he is awaiting neurosurgical work up. Conclusion Importance of high index of suspicion of surgical cause of third nerve palsyy depsite pupil involvement. To Highlight an unusual presentation of pituitary tumour
Pupil light reflexes mediated by outer retinal versus inner retinal photoreceptors in normal subjects and patients with neuroretinal visual loss
Authors: KAWASAKI A , ANDERSON SC , KARDON RH 
Published: September 2008

Abstract Purpose This study was designed to translate recently published physiological behavior of the melanopsin‐expressing retinal ganglion cells to the clinical setting. Methods 43 normal eyes were tested by recording the pupil light reflex to a Ganzfeld red (620nm+/‐20nm) and blue (480nm+/‐20nm) light stimulus at 3 light intensities (1, 10, and 100 cd/m2) under mesopic conditions. The pupil responses of the normal subjects were compared to patients with outer retinal disease and patients with optic nerve damage. Results In normal eyes at lower intensities, blue light evoked much greater pupil responses compared to red light when matched for photopic luminance. A disparity between the transient and sustained pupil contractions was greatest at the lowest light intensity and decreased with increasing light intensity. Patients with primarily rod dysfunction showed reduced pupil responses to low intensity blue light stimulation.. A patient with genetically confirmed achromatopsia showed selective reduction of the pupil response to high intensity red light stimulation. Patients with optic neuropathy tended to have reduced pupil responses to all light conditions. Conclusion Pupil responses that differ as a function of light intensity and wavelength support the hypothesis that selected stimulus conditions can produce pupil responses that may reflect phototransduction mediated by either rods, cones, or intrinsic activation of melanopsin‐expressing retinal ganglion cells. The pupil light reflex may be used to differentiate diseases affecting either the outer or inner retina.
Genetic determinants of abnormal eye movements
Authors: LEROY BP 
Published: September 2008

Abstract Purpose To describe the phenotypes and genotypes of genetically determined disease leading to nystagmus. Methods A case presentation format will be used to illustrate different genetically determined conditions leading to nystagmus. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed. Results Phenotypes and genotypes of genetically determined nystagmus are very different. An important distinction to be made is the one between stationary and progressive diseases. Indeed, such distinction is important as the visual outcome varies considerably between those different conditions. Conclusion Very diverse conditions may give rise to genetically determined nystagmus. Genetics and visual electrophysiology allows an important distinction between progressive and stationary conditions.
The neurological approach to ocular instability
Authors: MILEA D 
Published: September 2008

Abstract Purpose Several neurological conditions can cause acquired instable eyes, nystagmus being certainly the most common finding in this setting. Methods Nystagmus is an involuntary repetitive to‐and‐fro movement of the eyes, initiated by a slow ocular drift. The slow phase can be followed by a rapid return (in jerk nystagmus) or a repetitive slow phase only (pendular nystagmus). Results A simple diagnostic algorithm of neurological nystagmus and other causes of ocular instability will be presented. Conclusion Neurological nystagmus is only one of the aspects of acquired instable fixation. A precise clinical description of nystagmus is conditioning the subsequent diagnostic and management algorithm.
Structure of the lid margin in laboratory animals
Authors: KNOP N , KNOP E 
Published: September 2008

Abstract Purpose The eye lid margin is of great importance for the spreading and the limitation of the tears. The so called lid wiper which is a specialized zone at the inner lid border directly apposed to the corneal surface for spreading the preocular tear film has, at present, only been described for the human conjunctiva. We have investigated common laboratory animals (rat and rabbit) for the presence of such a zone. Methods Conjunctival whole‐mount specimens and total bulbi were investigated by serial section histology in ten rats (DA and Lewis) and in ten rabbits (NZW and Chinchilla). Results The stratified squamous keratinised epidermis of the free lid margin showed a sharp transition with loss of the keratin layer at the level of the meibomian glands. Close to the inner lid border it was replaced by a small zone of an optically denser epithelium covered by para‐keratinised cells. This area represented the mucocutaneous junction (MCJ) equivalent to the line of Marx in the human.The MCJ rapidly transformed into a thickened 8‐12 cell layered stratified epithelium of that formed a cushion‐like epithelial elevation, reclined sharply towards the inner lid border and hence formed a typically relatively sharp lip‐like edge. The lid‐wiper epithelium showed species‐specific differences in morphology (cuboidal with goblet cells in the rabbit versus squamous without goblet cells in the rat) but it extended all along the lid margin in both species. Conclusion At the inner border of the upper and lower lid of rat and rabbit, several zones of different morphology occur similar to the human including a lid‐wiper structure. Since lid wiper epitheliopathy was shown as a sensitive early indicator for human dry eye syndrome its investigation may be useful for future research in dry eye models of laboratory animals.
Compartmental factors influencing tear film osmolarity
Authors: BRON AJ , TIFFANY JM , GAFFNEY EA 
Published: September 2008

Abstract Purpose To illustrate how compartmental factors could influence the distribution of tear osmolarity at the ocular surface in normals and dry eye. Methods Mathematical modelling using parameters in the literature. Results Tear film hyperosmolarity is a final common pathway causing ocular surface damage in dry eye. Modelling predicts that tear osmolarity is higher in the tear film than the meniscus, which may influence the distribution of ocular surface damage and the initiation of symptoms caused by hyperosmolarity. Once tear film break up occurs within the blink interval it is likely that this differential is amplified locally. The model allows the effect of compartmental factors on tear osmolarity to be addressed, including: regional differences in air flow and surface temperature, variations in ambient temperature and humidity, imperfect tear mixing, differential corneal and conjunctival exposure and individual differences in reflex tear flow, evaporation rate and blink interval. We hypothesise that interactions between these factors determine the dry eye phenotype in an individual. Additional considerations suggest that events at the ocular surface differ in aqueous‐deficient and evaporative dry eye. Conclusion Hyperosmolarity at the ocular surface is affected by multiple factors, each of which may make different contributions to distribution and severity of surface damage in a given individual. This may determine the phenotype, frequency and severity of dry eye in a population.
Lid wiper epitheliopathy, ocular surface and tear film in symptomatic contact lens wearers
Authors: PULT H , PURSLOW C , MURPHY PJ , BERRY M 
Published: September 2008

Abstract Purpose Lid wiper epitheliopathy (LWE) as well as lid parallel conjunctival folds (LIPCOF) are related to dry eye symptoms in contact lens weares and are thought to be caused by mechanical forces during blinking. This study investigates whether any correlations are detectable between LWE and LIPCOF and the ocular surface and tear film in soft contact lens wearers. Methods 38 subjects were classified asymptomatic and 23 symptomatic by the Contact Lens Dry Eye Questionnaire. Pre‐lens break‐up time, ocular hyperaemia, corneal staining, LWE and LIPCOF were assessed in the right eyes of 61 (23 males, 38 females; mean age = 32.1 ±11.4yrs) experienced lens wearers. Pre‐ocular fluid was sampled using Schirmer strips pressed onto the temporal conjunctiva, and from harvested contact lenses. Mucins were assessed in dot‐blots and in Western blots after electrophoresis on 1% agarose or 4‐12% NuPAGE Gels. Results LWE and LIPCOF were significantly increased in the symptomatic group (p<0.03). Significant correlations were found between LWE and both temporal LIPCOF (r=0.67, p<0.001), and nasal LIPCOF (r=0.39, p<0.001), and between LWE and bulbar hyperaemia (r=0.28, p<0.001). MUC5AC reactivity was significantly decreased in symptomatics (p=0.050). MUC4 was negatively correlated to temporal LIPCOF and LWE (r=‐0.47 and ‐0.46; p<0.01), MUC16 and MUC5AC correlated with corneal staining (0.36<r<0.53;p<0.04) Conclusion Symptomatic contact lens wearers exhibit significantly more LWE and LIPCOF, and decreased MUC5AC reactivity. Decreased mucins are associated with LWE and LIPCOF severity. Correlations between LWE and LIPCOF may reflect their common frictional origin. Increased friction might follow from insufficient mucins at the ocular surface.
Genetic epidemiology in age‐related cataract research
Authors: GRAW J , KLOPP N , ILLIG T , WELZL G , HOLLE R , WICHMANN HE , MEISINGER C 
Published: September 2008

Abstract Purpose Age‐related cataracts are the major cause of blindness worldwide. However, the contribution of genetics to their etiology is largely unknown. In contrast, the congenital and juvenile forms of cataracts are mainly caused by de‐novo or hereditary mutations leading to severe changes in the structure and/or function of the corresponding proteins – as it is obvious from the dominant mode of inheritance of most of the mutations. In addition to rare mutations, these cataract‐causing genes have also polymorphic sites in their regulatory and coding sequences (single nucleotide polymorphisms, SNPs); they might contribute to minor changes in the structure and/or function of the corresponding proteins. These alterations could be cataractogenic per se (in a mild form) or they might lead to an increased sensitivity of the proteins to environmental stress. Methods In a new population‐based study in Augsburg (Germany), which will be finished in summer 2008, ~3000 probands have been asked for cataracts; the answers are being validated and further specified by the treating ophthalmologists. Results 16 SNPs from known cataract causing genes (coding for crystallins, connexins and transcription factors) have been identified to be informative without violation of the Hardy‐Weinberg equilibrium. They will be tested with respect to their association with age‐related cataracts by logistic regression allowing for adjustment with respect to age, gender and other confounding effects. Conclusion The results will be presented and discussed.
Genetics in exfoliation syndrome and age‐related cataract
Authors: JONASSON F 
Published: September 2008

Abstract Purpose To describe the recent discovery of the association of Lysyl Oxidase Like 1 (LOXL1) gene polymorphisms with exfoliation syndrome as well as similar study on age‐related cataract. Methods For phenotyping of exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) peripheral band and/or central shield of exfoliative material on the anterior lens capsule was required and in case of glaucoma glaucomatous optic neuropathy. For phenotyping we excluded all exfoliation suspects. The phenotyping of cataract included cortical and nuclear cataract by type and grade using the Japanese Co‐operative Cataract Epidemiology Study Group system. Our genome wide association study on open angle glaucoma included XFG. For both studies we used the Illumina 300 chip including over 300,000 single – nucleotide polymorphisms (SNP´s). Results When we had done 195 open angle glaucoma cases high genome wide significance was achieved on chromosome 15q24.1 in the LOXL 1 gene, later identified to be confined to XFG only. Combined, the identified DNA sequence variants explained 99% of the population attributable risk for exfoliation glaucoma. Having done 234 cases of age‐related cataract we still have not achieved a high genome wide significance although there was a modest signal associated with the LOXL1 polymorphisms. Conclusion Exfoliation glaucoma and age‐related cataract have in twin studies both been found to have strong hereditary components. We did discover a major genetic risk factor for XFG/XFS, have however, so far, been unable to identify a highly significant single nucleotide polymorphism for age‐related cataract. The risk factors for cataract may include many modest genetic risk factors together with environmental risk factors.