bluuebunny/crossref_metadata_2025_split huggingface dataset:
Update on ophthalmic molecular genetics
Authors: DE BAERE E 
Published: November 2010

Abstract Purpose To provide an overview of the recent technological advances in human molecular genetics that can be applied in ophthalmic genetics. Methods Since the finalization of the Human Genome Project many novel genomic technologies emerged that led to significant advances in gene identification and genetic testing of hereditary eye disorders: (1) genomewide copy number screening (array CGH); (2) genomewide SNP genotyping; (3) next‐generation sequencing. Results (1) Microarray comparative genomic hybridisation or array CGH allows genomewide discovery of submicroscopic deletions and duplications in a single experiment. This technique is applied in routine molecular cytogenetic testing. Using array CGH a causal genomic defect can be found in at least 10% of all cases with mental retardation and/or multiple congenital anomalies. In ophthalmic genetics array CGH is mainly useful in the context of developmental eye disorders, with chorioretinal coloboma and anterior segment dysgenesis as an example. (2) Genomewide chip‐based SNP genotyping can be used for homozygosity mapping in inbred and outbred pedigrees. Recent successes in gene identification using this approach are illustrated. (3) Next‐generation sequencing or NGS. The application of this technology in gene identification and genetic testing of genetically heterogeneous conditions (with LCA as a paradigm) is discussed. Conclusion The rapid progress of genomic technologies such as array CGH, SNP chip analysis and next‐generation sequencing lead to a boost in gene identification and genetic testing of both developmental and retinal eye disease.
Update on inherited ocular developmental disease
Authors: BLACK GCM 
Published: November 2010

Abstract Purpose To provide an overview of progress in understanding of the genetics of developmental ocular disease. Methods A systematic review, including case presentations, to illustrate insights into genes underlying developmental ocular disorders: Results Studies suggest that, in developed countries, between a third and a half of the diagnoses underlying childhood blind or partial‐sighted registration are genetic while a number of other ‘non‐genetic’ conditions also have a substantial genetic contribution. Such a figure is likely to be an underestimate. Although most of these conditions are rare, many of the issues regarding diagnosis and counselling apply to the group as a whole and it is therefore possible to consider a common approach to many aspects of their clinical management. An important challenge, for example, is to improve genetic counselling for patients affected by, and at risk of, disorders that may be caused by a genetic change in one of many possible genes, which typifies many inherited conditions associated with blindness (developmental ocular disorders, early‐onset retinal dystrophies, congenital cataract). Most diagnostic genetic testing currently being undertaken focuses on single genes; this will be illustrated for ocular conditions such as retinoblastoma, Norrie disease and microphthalmia. However future prospects will focus upon use of new higher throughput technologies (e.g Microarray technologies). Conclusion The recent identification of genes underlying, for example, anophthalmia/microphthalmia spectrum (e.g. VSX2, SOX2, BCOR), anterior segment dysgenesis (e.g. PITX2, FOXC1, FOXE3) and early–onset retinal disorders (e.g. ADVIRC, RPE65) has shed light on the pathways and processes underlying a range of the biological processes underlying ocular development.
Electrodiagnosis in inherited retinal disease
Authors: HOLDER GE 
Published: November 2010

Abstract Purpose To describe the roles of electrophysiology in the diagnosis and counselling of patients with inherited retinal disease. Methods Electrophysiological testing performed to incorporate and extend the recommendations of the International Society for Clinical Electrophysiology of Vision. Results Using a case‐based presentation, it will be shown that electrophysiological testing can objectively assess the function of the different cell types and layers within the retina of the patient with inherited retinal dysfunction, which enables accurate diagnosis and counselling when placed in clinical context. The roles of pattern and multi‐focal ERG in the assessment of macular function will be discussed. The electrophysiological findings will be discussed in relation to imaging studies when appropriate. It will shown that distinctive electrophysiological findings can direct appropriate and therefore cost‐effective mutational screening in patients with atypical fundus changes. Conclusion Electrophysiological testing is fundamental to the successful management of patients with inherited disorders of retinal function.
Canaliculitis: epidemiology and care in about 8 cases
Authors: DUPLA JB , LEGARREC J , ABADIE C , MOURIAUX F 
Published: November 2010

Abstract Purpose Canaliculitis is a cause of recurrent conjunctivis and epiphora, commonly misdiagnoses. The medical treatment is usually inadequate and surgery is the mainstay of treatment. Methods It is a retrospective study of surgical procedures associated with subsequent topical antibiotic therapy. We report the clinical features, microbiological profile and treatment outcome in a series of 8 patients with suppurative lacrimal canaliculitis over a period of 4 years in Caen teaching hospital. Results Actinomyces israelli was identified in 7 cases. Canalicular curretage was performed in 5 cases with intubation in 3 cases. 3 patients were treated by anterior canaliculotomy. The canaliculitis resolved completely after surgery in 7 cases. All patients have patent canalicula. One case of early recurrence was treated by a second curretage successfully. Conclusion Canaliculitis is often delayed diagnoses. The treatment must be a surgical removal of all possible concretions for cure. Canalicular curretage is efficient in most of cases and preserves the lacrimal puctum. Intubation can be discussed.
Inflammatory neovascular membrane
Authors: NERI P 
Published: November 2010

Abstract Purpose To describe the most common mistakes in the management of inflammatory choroidal neovascularization (CNV). Methods The current literature is reviewed and the experience of a tertiary referral centre is reported. Results CNV is a potentially sight‐threatening sequela of uveitis. Several mistakes can be done during patients examination: CNV might not be recognized both at biomicroscopy and at fluorescein angiography (FA), for instance. Moreover, since some doctors are not aware of the importance of Indocyanine Green Angiography (ICGA), the choroidal involvement during inflammatory CNV might not be appreciated. These are just some examples of possible errors which can be done during the daily practice. The outcome of subfoveal CNV is poor if untreated: several procedures have been considered, even though there is lack of guidelines. The most important mistake can be represented by the lack of criticism on the treatment techniques: several methods have been proposed, albeit some of them should not be used on the basis of the treatment rationale and on the better knowledge of CNV pathophysiology. The presentation shows the most typical cases where the above mentioned mistakes have been done, suggesting some methods in order to avoid them. Conclusion CNV secondary to uveitis is a severe sequela, which can lead to significant visual impairment. Several mistakes can be done during both the diagnosis and the therapeutic procedures. Although no guideline is provided, the current medical literature can give the basis for a successful treatment strategy.
C3 gene polymorphism R102G in a Greek population with age‐related macular degeneration
Authors: PHARMAKAKIS N , DELIS A , MARIOLIS D , HAVAS I , ZARKADIS I 
Published: November 2010

Abstract Purpose To elucidate whether C3 R102G polymorphism is a major genetic determinant of AMD in a Greek population as well as to evaluate its prognostic importance for progression to advanced AMD Methods A clinic‐based case‐control association study was conducted, comprising 98 Greek patients with early‐ and advanced‐stage AMD and 125 independent controls of Caucasian origin. All participants underwent a complete ophthalmic examination, fluorescein angiography and OCT. Information on cigarette smoking, hypertension and family history was obtained by interview at baseline. Moreover, they were genotyped for C3 R102G polymorphism, by using ARMS‐PCR. Results The frequency of the C3 R102G allele was significantly higher in AMD patients in comparison with controls while the odds ratio (OR) for AMD was 1,46 (CI 95% = 0,82‐2,59). Statistical comparison between early and advanced AMD patients, on the basis of C3 genotypic frequencies, revealed that the C3 R102G allele was more prevalent in advanced AMD patients (P<0,05, OR=2,62). Moreover, both GG and CG genotypes were found to be more prevalent in patients with neovascular AMD (ORs = 3,95 and 2,51, respectively) when compared with non‐exudative AMD patients. Concerning family history, it is significantly higher among patients with GG genotype when compared to CG and CC genotypes. On the contrary, C allele was associated with hypertension and smoking in AMD patients when compared to G allele. Conclusion The replication of the reported associations of C3 R102G polymorphism with AMD suggest that the 102G allele could serve as a genetic marker for the development of AMD and the progression of the disease to the advanced clinical stage in the Greek population.
Development and evaluation of PLGA nanoparticles with cyclosporine and the inclusion of HPβCD for ocular use
Authors: HERMANS K , WEYENBERG W , LUDWIG A 
Published: November 2010

AbstractOcular delivery of peptides requires new concepts in order to optimize the bioavailability and its therapeutic effect. The first peptide selected in present research project is Cyclosporine A (CyA) used in the treatment of the dry eye syndrome and against corneal graft rejection. The aim of the project is the development of nanoparticles with physicochemical properties for a suitable and prolonged release of CyA, using a factorial design. These drug delivery systems will be produced employing PLGA using the emulsification solvent evaporation method. Positively charged polymers as chitosan or Eudragit® will be incorporated to obtain nanoparticles with a positive particle charge. Electrostatic interactions with the negatively charged mucins lead to a prolonged residence time at the precorneal area. Nanoparticles will be evaluated on zeta potential, particle size and their in vitro drug release properties. CyA and CyA complexed with HPβCD will be compared. The most suitable preparations will be selected in a next phase of the project for an in vivo study using an animal model.
Analysis of the utility of QuantiFERON‐TB GoldTM in tube and measurement of IFNγ release by peripheral mononuclear cells in response to different mycobacterium antigen in the work‐up of patients with uveitis
Authors: MAKHOUL D 
Published: November 2010

Abstract Purpose Tuberculosis remains an important cause of infectious uveitis and immune reaction against mycobacteria may contribute to the development of certain forms of autoimmune uveitis. Moreover, many non‐infectious uveitis patients are treated with immunomodulatory treatment. The evaluation of tuberculosis immunity is thus an important aspect in the work‐up of patients with uveitis. In this work, we would like to investigate the usefulness of different methods of tuberculosis immunity testing in a series of patients with intraocular inflammation. Methods Patients with uveitis will undergo a standard diagnosis procedure, including a chest Xray. Quantiferon TB Gold in Tube (QFT) and tuberculin skin test (TST) will be performed. IFNγ production by mononuclear cells in response to PPD and to HBHA will be measured by ELISA. Results Thirty‐two patients have already been recruited. Sixteen had a negative QFT and a negative TST. In two of them, mononuclear cells produce IFNγ in response to PPD (but not to HBHA) and in 1 in response to HBHA (but not to PPD). In 11 patients QFT and TST were positive. In this group, IFNγ response to PPD was observed in 82% but only in 50% in response to HBHA. Discordant results between QFT and TST were observed in 5 patients. One had a positive QFT and a negative TST and 4 had a positive TST and a negative QFT. In this group IFNγ response to PPD or HBHA was not observed. Conclusion Discordant results between QuantiFERON‐TB Gold and TST were observed in 15 % of uveitis patients. Analysis of the IFNγ production in response to PPD and to HBHA seems to add important information in both concordant and discordant group.
Expression and role of aquaporins in diabetic retinopathy
Authors: MOTULSKY E 
Published: November 2010

Abstract Purpose Aquaporins (AQP) are involved in water movements but also in cell proliferation. The aim of our study is to investigate their potential role in diabetic retinopathy Methods In vitro, human and mouse RPE cell line will be grown under different conditions. Expression of AQPs will be investigated by RT‐PCR and Western blot. Immunofluorescence will be used to determine AQP expression on retinal section from normal and NOD diabetic mice, and on on vitreoretinal membranes removed from patients with proliferative retinopathy Results Human ARPE‐19 cells expressed AQP4, while mouse B6‐RPE07 cells expressed AQP1. Hypertonic conditions strongly decrease AQP4 expression in ARPE‐19, but not AQP1 expression in B6‐RPE07 cells. In B6‐RPE07 cells, significantly decrease in AQP1 expression was obtained following TNFα treatment. In normal mice, AQP1 and AQP4 expression were restricted to the photoreceptor layer and to the Müller cells, respectively. Retinal endothelial cells did not express AQP1. No AQP4 expression was detected in RPE cells. AQP1 was strongly expressed by choroidal endothelial cells, rendering difficult the evaluation of AQP1 expression by RPE cells in vivo Conclusion Our preliminary data confirms that blood retinal barrier cells express AQPs in vitro and in vivo. More studies are needed to precise the nature and regulation of this expression in normal and diabetic conditions. We hope that our combined in vitro and in vivo approaches might help to better understand this complex aspect of retinal biology
Three dimensional computed tomography application for ocular foreign bodies visualization
Authors: ASOKLIS R , PAJAUJIS M , BUTKIENE L , MAKSELIS A , RUTKAUSKAITE D 
Published: November 2010

Abstract Purpose To present 3 cases reports of eye injuries and application of three dimensional computed tomography (3DCT) for the ocular foreign bodies (FB) localization. Methods Case 1. 34 years old female was admitted to hospital because of the right eye injury during a car accident. Giant glass fragment in the right orbit was visible, extent of the lesion was obscure. Case 2. 49 years old male was admitted to hospital because of the right eye open globe injury. The fishing hook in the right eye cornea, laceration of the iris, and traumatic cataract were found. Case 3. 36 years old male was admitted to hospital because of the left eye open globe injury with a drill fragment. After the pupil dilatation the FB in the lens was detected. In all cases X‐ray examination, single slice computer tomography (SSCT) and 3DCT reconstruction images were performed. Results Data of 3DCT allowed discovering extent of the injury and localization of the FB. Patients were operated, FB’s were removed. In case 1 periocular skin lacerations were sutured recovering anatomical and functional tissue integrity. In case 2 and 3 extraction of traumatic cataracts and intraocular lens implantation were performed. Conclusion Conventional radiological methods such as X‐ray examination and SSCT can be insufficient suggesting complex eye trauma cases. 3DCT is informative tool and helps to determine the location of the FB and extent of the injury.
Ability of Fourier domain OCT to evaluate macula in retinitis pigmentosa patients
Authors: GARCIA MARTIN E , PINILLA I , IDOIPE M , FUERTES MI , CRUZ N , ABECIA E , GIL‐ARRIBAS L , GUERRI MONCLUS N , FERNANDEZ S 
Published: November 2010

Abstract Purpose To evaluate the ability of Fourier domain optical coherence tomography (OCT) detecting changes in macular structure and thickness in patients diagnosed of Retinitis Pigmentosa (RP). Methods Thirty‐two eyes of 16 patients with RP and 30 eyes of 30 healthy subjects underwent a complete ophthalmic examination with best corrected visual acuity, 512x128 macular volume cube protocol using Cirrus HD‐OCT (Carl Zeiss Meditec, Inc., USA) and Spectralis OCT (Heidelberg Engineering, Germany). Macular changes as retinal schisis, macular hole (MH), epiretinal membrane (EM), retinal pigment epithelial detachment (PED) or macular drusen, were registered. Comparisons between RP and healthy eyes were done for the nine macular areas defined by the Early Treatment Diabetic Retinopathy Study (ETDRS). Results All macular thickness parameters showed a statistically significant decrease in the RP patients (p<0.05, t test). The greater difference with control eyes was observed in the nasal inner ETDRS area (247.54 vs 328.99 µm with Cirrus OCT and 259.65 vs 351.74 µm using Spectralis OCT). Retinal abnormalities found in RP eyes were: 16% retinal schisis, 3.3% MH, 6.6% EM and 3.3% PED. Conclusion Retinal atrophy and structural alterations can be detected in RP patients using Fourier domain OCT.
Electrophysiological findings in a large sample of children with diagnosis of Joubert syndrome
Authors: SUZANI M , RUBERTO G , SIGNORINI S , BERTONE C , BARILLA D , MISEFARI W , ANTONINI M , TINELLI C , BIANCHI PE 
Published: November 2010

Abstract Purpose To compare electrophysiological data in a group of patients with Joubert syndrome (JS). Methods We enrolled 26 JS patients. They underwent to complete ophthalmological assessment and functional analysis by mean of electroretinogram (ERG) and patterned evoked potentials (pVEPs) recorded in awake conditions. Patients were divided into 2 groups, depending on the presence of retinal dystrophy at clinical evaluation. We compared data from electrophysiological assessment between three groups of eyes: 1) JS subjects with retinal dystrophy (RD‐JS): 15 patients 2) JS subjects without retinal dystrophy (NRD‐JS): 11 patients 3) Control (CTRL) eyes: 18 patients Results Our three groups did not statistically differ in age. In the RD‐JS, traces were really poor, mostly the 30 Hz and "a“ component, or not measurable at all. Though, for the “b“ trace, it was possible to measure reliable signal in 7 of 15 patients. As a result of the statistical analysis (ANOVA Kwallis with adjust p values for two comparisons) mean ERG amplitudes and latencies were reduced and delayed respectively, not only in the analysis “RD‐JS vs CTRL” and “RD‐JS vs NRD‐JS”, but also, for some parameters, between NRD‐JS and the CTRL. Conclusion The electrophysiological alterations in the ERG and pVEPs recordings might be an index of subclinical involvement or imply both a central retinal alteration and a central nervous system disease.
Influence of change in body position on choroidal blood flow in patients with obstructive sleep apnea syndrome
Authors: ALMANJOUMI A , TONINI M , KHAYI H , PEPIN JL , RENARD E , LEVY P , ROMANET JP , GEISER MH , CHIQUET C 
Published: November 2010

Abstract Purpose Obstructive sleep apnea syndrome (OSA) has been reported to be associated with ischemic and glaucomatous optic neuropathy (especially normal tension glaucoma). OSA per se is able to generate hypertension, atherosclerosis and autonomic dysfunction, all conditions possibly interacting with ocular vascular regulation. The aim of our study was to characterize the choroidal vascular reactivity to change in body position in OSA patients, as compared with matched healthy control subjects. Methods Eighteen newly diagnosed OSA patients were included in this prospective study. Control subjects were matched with OSA patients for body mass index (BMI), gender and age. At the screening visit, each subject underwent a general exam, cardiovascular, neurologic and ophthalmological examinations, and overnight polysomnography. The LDF instrument used in this study to measure subfoveal choroidal blood flow (ChBF), ChBVel , velocity (kHz); and volume, ChBVol (in arbitrary units, AU) Vascular choroidal reactivity was tested during the change in body position from the sitting to the supine position (10 min). Results OSA patients exhibited a similar choroidal reactivity during change in body position than controls with increased ChBVel (+15%), decreased ChBVol (‐11.6%), and unchanged ChBF. IOP increased by 14.2% in the supine position whereas ocular perfusion pressure remained stable. Conclusion This prospective comparative study showed for the first time unimpaired choroidal vascular reactivity in otherwise healthy OSA patients. This suggests OSA patients, without comorbidities, has long‐term adaptive mechanisms active in ocular microcirculation.
Preservative free tafluprost 0.0015% in the treatment of patients with ocular hypertension and glaucoma: results of a multi‐center open‐label observational study
Authors: LANZL I , ERB C , SEIDOVA S , KIMMICH F 
Published: November 2010

Abstract Purpose Efficacy, tolerability and safety of the novel preservative‐free prostaglandin tafluprost 0.0015% were investigated. Methods Data were collected in a non‐interventional prospective multi‐center observational open label study. IOP readings were recorded for each eye at baseline (prior therapy or untreated) and 12 weeks after changing or initiating treatment with preservative‐free tafluprost. Change in IOP was evaluated over the study period for all patients and for specific pre‐treatment subgroups. Local comfort was measured using a 5 step scale. All adverse events were recorded. Results Data from 2123 patients with glaucoma or ocular hypertension were eligible for the final evaluation. In all patients preservative‐free tafluprost lowered IOP from 19.5+4.4 mmHg at baseline to 16.4+2.9 mmHg after 12 weeks. Preservative‐free tafluprost also lowered IOP significantly in all monotherapy‐subgroups: Naϊve patients (N=440): 22.6+3.9 mmHg to 16.7+2.7mmHg; betablockers (N=307): 20.3+3.5 mmHg (baseline) to 16.7+2.6 mmHg (week 12); CAI’s (N=158): 19.0+3.6 mmHg to 16.0+2.6 mmHg; PG’s (N=447): 16.8+2.9 mmHg to 15.8+2.6 mmHg. Local comfort was rated as 'very good' or 'good' by 85.6% of patients at the final visit. Only few adverse events occurred during the treatment period. Conclusion Preservative‐free tafluprost was effective, well tolerated and safe in a broad patient population. Local comfort and patient satisfaction improved after change of medical treatment in the vast majority of patients.
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