bluuebunny/crossref_metadata_2025 huggingface dataset:
Principles of Genetic Counseling
Authors: HALL G
Published: December 2011

Purpose To present the genetic counselling needs of families with inherited eye disease and examine the ethical and emotional issues around genetic testing

Methods 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

Purpose 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
Ahmed glaucoma valve implantation for neovascular glaucoma after vitrectomy for proliferative diabetic retinopathy
Authors: CHO H
Published: December 2011

Purpose To evaluate the safety and efficacy of Ahmed Glaucoma Valve implantation (AGVI) for the management of neovascular glaucoma (NVG) associated with proliferative diabetic retinopathy (PDR) in the vitrectomized eyes.

Methods We reviewed the medical records of patients with NVG associated with PDR who underwent AGVI for intraocular pressure (IOP) control and compared the surgical outcome according to vitrectomy history. The main outcome measures were: postoperative IOP control, visual acuity, and complications. Success was defined as an IOP of ≤21 mm Hg and ≥6 mm Hg, without further glaucoma surgery or loss of light perception and devastating complications.

Results A total of 38 patients (38 eyes) were included.The cumulative probabilities of success after AGVI were 88.2% after 6 months and 85.2% after 1 year., Cox proportional hazards regression showed the intraocular silicone oil tamponade as a risk factor for the surgical failure (odds ratio=4.543, P=0.047). Final visual acuity improved or stabilized in 30 patients (78.9%) Complications were comparable with previous studies.

Conclusion Despite some complications that necessitate surgical intervention, the AGVI is a safe and effective procedure that enables successful IOP control and vision preservation in patients with NVG associated with vitrectomy for the PDR
PCR in posterior segment viral diseases
Authors: BODAGHI B
Published: December 2011

Since its introduction in the early eighties, PCR has dramatically changed our approach to the diagnosis and understanding of intraocular viral diseases. Even though serology remains the effective diagnostic tool for diseases such as West‐Nile virus or dengue‐virus retinitis, PCR is the gold‐standard for herpetic retinopathies. Two major subtypes have been described including necrotizing and nonnecrotizing herpetic retinopathies. In Europe, diagnosis is performed based on the analysis of the aqueous humor, whereas vitrectomy is more frequently performed in the USA. Less than 100 microlitters of liquid is sufficient for the procedure. Real‐time PCR is now available for most of the herpesviruses allowing a quantitative determination of the viral load. The identification of the viral agent is paramount in the management of the disease by adapting the antiviral strategy. VZV, HSV‐1, HSV‐2 and CMV are the main causes of viral retinitis. Acute retinal necrosis syndrome is mainly observed in immunocompetent patients whereas, progressive outer retinal necrosis syndrome and CMV retinitis occur classically in immunocompromised patients. Intravitreal injection of corticosteroids must be considered as a risk factor. The decrease of the viral load is a major prognostic factor and must be taken into consideration for an optimal management.
CSF pressure and glaucoma: Pro
Authors: JONAS JB
Published: December 2011

Purpose The Optic nerve in its orbital is surrounded by cerebrospinal fluid pressure (CSF) with the CSF‐pressure. It may therefore make sense to consider the trans‐lamina cribrosa pressure difference of intraocular pressure minus orbital CSF‐pressure to be important for the physiology of the optic nerve head, in normal eyes and eyes with glaucoma

Methods The talk will present anatomical findings of the optic disc and results of previoous experimental and clinical studies which may support the hypothesis that the CSF‐pressure may play some role in the pathogenesis of glaucomatous optic neuropathy.
Deep sclerectomy: Pro
Authors: COLLIGNON NJ
Published: December 2011

Purpose From the weight of the litterature, deep sclerectomy (DS) certainly is safer than trabeculectomy and as safe as modern trabeculectomy and thus might represent an alternative therapy earlier in the glaucoma process.

Methods The controversy between the IOP‐lowering effect of trabeculectomy versus of DS will remain as long as variable definitions of success, different follow‐up times, and variable study designs render comparisons between studies very difficult.

Results Although the DS is not the first choice therapy in the angle closure glaucoma, it has a significant advantage (1) in young patients where lower cataract formation occurs following DS, (2) in monocular patients, (3) in patients with high myopia, and (4) in patients with tubular visual fields. The facts that the anterior chamber is not perforating in the original DS and that postoperative intraocular inflammation is minimal make it a good alternative therapeutic choice for (5) uveitic glaucoma cases or (6) glaucoma secondary to iris melanoma. Considering goniopuncture as a failure criterion or as a two‐stage penetrating surgery as needed in at least 50% of the cases, could be weighted to considering suture lysis and capsulotomy as failure criteria of glaucoma and cataract surgeries. Performing goniopuncture with caution might avoid the most adverse events like iris incarceration

Conclusion Deep sclerectomy or non penetrating glaucoma surgery continue to evolve in developing new ideas like canaloplasty that would offer better safety and efficacy than the gold standard, namely, trabeculectomy.
Comparison between 2 recent optical biometry devices
Authors: DJABAROUTI M , BADAT I , MERCIE M , BOISSONNOT M , DIGHIERO P , GICQUEL JJ
Published: December 2011

Purpose To compare the refractive precision and the ease of use of 2 recent optical biometry devices.

Methods Fifty patients (50 eyes with grade II and over cataracts according to the Oxford classification) underwent optical biometry measurements with 2 optical biometers, the IOLMaster 500 (partial coherence interferometry [PCI] device) and the Lenstar LS 900 (optical low‐coherence reflectometry [OLCR] device. Keratometry was also measured in each patient with the NIDEK ARK 900 keratometer. IOL power calculation was performed using the SRK‐T formula. The duration of the actual measurement process was also recorded.

Results IOL power calculation could not be achieved in 2 patients with the PCI biometer (1 post traumatic cataract, 1 dense subcapsular cataract) versus 5 patients with the OLCR device (1 post traumatic cataract, 1 dense subcapsular cataract and 3 loss of fixation). There was an excellent correlation between the keratometric measurements obtained with both biometers and the ones obtained with the NIDEK ARK 900 keratometer. Measurements with the new OLCR device took significantly longer than with the PCI biometer.

Conclusion The accuracy of the IOL Master 500 and Lenstar 900 make them the 2 new gold standards of optical biometry. Both of them are easy to use and due to their non contact technology they prevent the potential transmission of non conventional infectious agents (theoretically possible with contact biometers).
Characteristics of the anterior eye segment in patients affected by ehlers‐danlos‐syndrome
Authors: WEGENER A , HOLTZ FG , FINGER R , WEISSBACH A
Published: December 2011

Purpose Ehlers‐Danlos Syndrome (EDS) characterizes an inherited connective tissue disorder caused by a molecular defect in the synthesis of collagen. The refractive, biometrical and densitometrical characteristics of the anterior eye segment in patients affected by various forms of EDS were analysed.

Methods 46 EDS patients in an age‐range of 6 to 62 years (mean age 33 years) affected by various types of EDS, as diagnosed by genetic screening or skin biopsies, were recruited on a voluntary basis for this study. They were subjected to a complete orthoptical and clinical examination including documentation of the anterior eye segment with the EAS 1000 (Eye Analysis System, Nidek, Gamagory, Japan). Apart from clinical parameters like visual acuity, ocular motility and intraocular pressure, biometric measurements have been performed for corneal thickness and curvature, anterior chamber geometry, lens biometry and densitometric analysis of corneal and lens light scattering.

Results The EDS patient population comprised 37% classical type, 28% hypermobile type and 13 % vascular type. Among the clinical parameters, prevalence of myopia combined with astigmatism was 33% that of hyperopia combined with astigmatism 28%. Strabismus was found in 11% and about 59% of the EDS patients complained about dry eyes problems. Densitometric aanalyses of the lens revealed a normal age‐related scattering profile in all patients. Similarly the biometric data for lens thickness and anterior chamber depth were within the normal range. Patients with the classical type EDS showed thinner corneas compared to the vascular or hypermobility type of EDS.

Conclusion Most of the clinical features described in association with EDS like thin and translucent sclera, keratoconus, lens luxation, retinal detachment or angoid streaks have not been observed in this study. Thinner cornea and perhaps more frequent anterior vitreal detachment were the only consistent pathological findings associated with the classical type of EDS which could be demonstrated in this study.
Semi‐automatic 3D reconstruction of the anterior segment from high frequency ultrasound scans
Authors: KOHANDANI TAFRESHI M , LAMARD M , COCHENER B
Published: December 2011

Purpose We propose a new method to perform the semi‐automatic 3D segmentation and reconstruction of the anterior segment (AS) using high frequency ultrasound (HFUS) scans. The main application aimed at by this development is the phakic IOL sizing based on the 3D morphological quantification of the AS:ATA, STS

Methods High frequency ultrasound (HFUS) data were acquired by a linear 50 MHz probe (Aviso from QUANTEL MEDICAL), using freehand scanning. An active localization system was used to spatially register each scan in a common 3D coordinates system. The steps of the AS segmentation were defined as follows: 1‐3D reference models were previously created using manual US image datasets segmentation. 2‐The 3D models were globally registered to the acquired data using the iterative closest point transform. 3‐A final manual control / correction ensures the accuracy of the overall procedure. Tests were performed on 12 volumes (containing from 30 to 45 slices) acquired in the same conditions, during the preoperative check up.

Results Our method is much less time consuming than manual segmentation: it took 21 ± 7 min only. The morphological values of the ATA and STS 3D reconstruction were extracted for all the meridians. The ATA had an average minimum and maximum radius of 5.22 ± 0.35 and 6.85 ± 0.5 mm respectively, and an average area of 105.77 ± 6 mm2. For the STS, an average minimum and maximum radius of 4.98 ± 0.32 and 6.81 ± 0.42 mm was determined, and its average area was 103.43 ± 5 mm2.

Conclusion The proposed method offered an accurate and fast 3D segmentation of the ocular anterior segment organs. Future work will aim at reducing the required time and human intervention for each patient datasets processing for better automation.

Commercial interest
A biocornea of fish scales – First results of a research model
Authors: VAN ESSEN TH , LIN CC , LAI HJ , HUSSAIN AK , LUYTEN GPM , JAGER MJ
Published: December 2011

Purpose To develop an animal model suitable to evaluate the biocompatibility of a fish‐scale derived biocornea. This biocornea has been developed as an alternative for the use of human tissue to replace damaged corneas. Prior to its use in humans, it is essential to determine the behavior and biocompatibility of the biocornea with the natural cornea.

Methods A ±250 µm thick, decellularized and decalcified fish scale‐derived collagen matrix was implanted into the corneas of three groups of Fischer 344 male albino rats of 14 weeks old. Rats were anesthetized with isufluorane, oxybuprocaine and marcaine and received corticosteroids postoperatively. The first group (n=6) received an Anterior Lamellar Keratoplasty (ALK). The second group (n=6) had the matrix implanted into an intralamellar corneal pocket and the third group (n=6) subconjunctivally. Discomfort, attachment of the implant, transparency of cornea and implant, epithelial damage and inflammation parameters were observed during 21 days.

Results In rats receiving an intralamellar pocket implantation different degrees of opacity were observed. The anterior lamel started to disappear after day 7. Implants in the ALK group remained transparent despite neovascularization in all cases, but no reepithelialization was observed. Rats with a subconjunctival implant showed local swelling, redness and induration which decreased in time.

Conclusion The artificial cornea is accepted quite well early on, but may lead to corneal melting. The curvature of the implant need be adjusted to better mimic the rats’ curvature. Future research is warranted to optimize the Biocornea.

Commercial interest
A formula to predict spectral‐domain OCT retinal nerve fiber layer measurements based on time‐domain OCT measurements
Authors: KIM NR , KIM CY , RHO SS , OH JH , MOON YS , CHIN HS , HONG S , SEONG GJ
Published: December 2011

Purpose To establish and validate a formula to predict spectral‐domain optical coherence tomography (SD‐OCT) retinal nerve fiber layer (RNFL) thickness from time‐domain (TD)‐OCT RNFL measurements and other factors.

Methods From healthy participants and patients with glaucoma, SD‐OCT and TD‐OCT scans were obtained on the same day. Univariate and multivariate linear regression relationships were analyzed to convert Stratus TD‐OCT measurements to Cirrus SD‐OCT measurements. Other baseline characteristics included were age, gender, intraocular pressure, central corneal thickness, spherical equivalent, anterior chamber depth, optic disc area, visual field mean deviation, and pattern standard deviation. The formula was generated using a training set of 220 patients and then evaluated on a validation dataset of 105 patients.

Results Univariate analysis determined that TD‐OCT RNFL thickness, age, optic disc area, visual field mean deviation, and pattern standard deviation were significantly associated with SD‐OCT RNFL thickness. Multivariate stepwise regression analysis using available variables yielded the following equation: SD‐OCT RNFL = 0.746 × TD‐OCT RNFL + 17.104 (R2 = 0.879). In the validation sample, the multiple regression model explained 85.6% of the variance in the SD‐OCT RNFL thickness.

Conclusion This formula based on TD‐OCT RNFL thickness may be useful in predicting SD‐OCT RNFL thickness. Other factors associated with SD‐OCT RNFL thickness, such as age, disc area, and mean deviation, did not contribute to the accuracy of the final equation.
The relationship between RNFL thickness and rim thickness by Cirrus HD OCT
Authors: LEE MK
Published: December 2011

Purpose To study the relationship between RNFL thickness and rim thickness by Cirrus HD OCT

Methods This prospective comparative study was conducted on 50 eyes from 50 glaucoma patients and 30 eyes from healthy 30 subjects. They were imaged by Cirrus HD OCT and the RNFL thickness and rim thickness data were analyzed. The correlations of the angles of the peaks in the RNFL thickness profile or rim thickness profiles with the axial length and spherical equivalent of refractive error (SE) were analyzed by simple linear regression

Results The global average RNFL thickness and rim thickness was significantly thinner in the glaucoma group than in the control group. The angles of the peaks in the RNFL thickness and rim thickness showed good correlation in both glaucoma and control group. Myopia affected the distribution of the peaks in the RNFL thickness and rim thickness. However, the effect were different between RNFL thickness and rim thickness

Conclusion The rim thickness had good correlation with RNFL thickness. And the degree of glaucoma and myopia affected the distribution of RNFL thickness and rim thickness
Clinical presentations in venous occlusion
Authors: JONAS JB
Published: December 2011

Clinical findings in eyes with retinal veouns occlusions, including those observations obtained by ophthalmodynamometry, will be presented and discussed.

Commercial interest
Genetics of Leber congenital amaurosis
Authors: DEN HOLLANDER AI , ROEPMAN R , KOENEKOOP RK , CREMERS FPM
Published: December 2011

Purpose To give an overview of our current knowledge of the genetic causes of Leber congenital amaurosis (LCA).

Methods Current literature on the genetic causes of LCA and the function of the defective gene products will be reviewed. In addition therapeutic options for the various genetic subtypes will be discussed.

Results Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 15 genes mutated in patients with LCA, which together explain approximately 70% of the cases. Several of these genes have also been implicated in other non‐syndromic or syndromic retinal diseases, such as retinitis pigmentosa and Joubert syndrome, respectively. CEP290, GUCY2D and CRB1 are the most frequently mutated LCA genes; one intronic CEP290 mutation (p.Cys998X) is found in 20% of LCA patients from north‐western Europe, although this frequency is lower in other populations. The LCA genes encode proteins with a wide variety of retinal functions, such as photoreceptor morphogenesis, phototransduction, vitamin A cycling and intra‐photoreceptor ciliary transport processes. Rodent, avian and canine models for LCA have been successfully corrected employing adeno‐associated virus or lentivirus‐based gene therapy. Moreover, phase 1 clinical trials have been carried out in humans with RPE65 deficiencies. In addition, a phase 1 clinical trial with a retinoid compound has been initiated in LCA patients with RPE65 and LRAT mutations.

Conclusion Future LCA research will focus on the identification of the remaining causal genes, the elucidation of the molecular mechanisms of disease in the retina, and the development of gene therapy approaches for different genetic subtypes of LCA.
Cons of steroids use in optic neuritis
Authors: GRZYBOWSKI A
Published: December 2011

Purpose To discuss benefits and risks of steroids use in optic neuritis.

Methods Analysis of evidence based studies

Results Steroids do not influence the final visual acuity in patients with optic neuritis. Their possible adverse effects will be discussed in detail.

Conclusion Intravenous steroids might be considered in the treatment of optic neuritis after detailed examination of patient’s general health status and when possible benefits overcome the risks of adverse effects.
Your first best glaucoma‐friend, the slit‐lamp
Authors: BRON AM
Published: December 2011

New technologies have provided the ophthalmologists with fascinating techniques to evaluating structure and function in glaucoma. Within a couple of minutes we can now obtain very sophisticated mappings, curves, indices, relations etc. The yield of these techniques in the screening, the diagnosis and the follow‐up of ocular hypertensive and glaucoma patients is invaluable. However as doctors we cannot forget the basis of a medical examination. Like the stethoscope for general practitioners and cardiologists, the slit‐lamp is a key step of the examination for ocular diseases by ophthalmologists. This course is designed for young ophthalmologists and we will give a check list to help them in the slit‐lamp examination from the lids to the optic nerve head. This rapid and systematic approach will help them to improve their daily clinical practice in glaucoma.
An update on muccous membranes management
Authors: CLAERHOUT I
Published: December 2011

Abstract not provided
Surgery of ectopia lentis
Authors: EGEA ESTOPINAN C , PRIETO CALVO E , IDOIPE M , SATUE M , FERRERAS A , FERNANDEZ LARRIPA S , ABECIA MARTINEZ E
Published: December 2011

Purpose Ectopia lentis is a patology with lens dislocation presumably secondary to zonular fiber weakness. Ectopia lentis can occur in isolation, in association with other ocular disorders or as part of systemic disorder. Marfan´s syndrome and homocystinuria are the most frequent cause of heritable ectopia lentis. Marfan syndrome (MFS) is a hereditary connective tissue disorder. Studies of MFS have established the critical contribution of fibrillin‐1 deficiency to disease progression through altered cell‐matrix interactions and dysregulated TGF‐β signalling.

Methods We report four eyes of 4 children aged from 2 years to 4 years with ectopia lentis Both cases showed bilateral and symmetric lens dislocation with low visual acuity. One of the children was diagnosed of Marfan syndrome.

Results We practised Twenty three gauge two port pars plana lensectomy without intraocular lenses.

Conclusion Pars plana lensectomy is a safe, effective procedure for the management of ectopia lentis. Earlier surgery is indicated to prevent amblyopia and improve visual acuity. Marfan syndrome, homocystinuria, trauma and simple ectopia lentis are the most common caused of pediatric lens subluxation. Ectopia lentis in children continues to be a diagnostic and therapeutic challenge for ophthalmologists. The convencional surgical management of congenital subluxated lenses infrequently associated with a high incidence of complications leading to poor visual prognosis. Surgical intervention is necessary when lens subluxation causes a significant refractive error resulting in amblyopia.
Anisometropia in population base study: The Mashhad Eye Study
Authors: OSTADIMOGHADDAM H , FOTOUHI A , HASHEMI H , HERAVIAN J , YEKTA AA , KHABAZKHOOB M
Published: December 2011

Purpose To determine the prevalence of anisometropia and its determinants in the population of Mashhad.

Methods In a cross‐sectional study in 2008, 4453 residents of Mashhad city between the ages of 1 and 90 years were selected using stratified cluster sampling, of which, 70.4% participated in the study. All respondents had visual acuity and refraction testing. Anisometropia was defined as the absolute interocular difference in the spherical equivalent based on non‐cycloplegic refraction. The prevalence rates and 95% confidence intervals (CI) of anisometropia was determined based on cutpoints of 0.5 diopter (D), 1.0 D, and 2.0 D or more, and we used the 1.0D cutpoint to examine associations.

Results After applying exclusion criteria, data from 2947 participants were used in the analyses. Based on cutpoints of 0.5D, 1.0D, and 2.0 D or more, the prevalence of anisometropia was 17.0% (95% CI, 15.1‐18.8), 5.6% (95% CI, 4.6‐6.6), and 1.7% (95% CI, 1.2‐2.2), respectively. The odds of anisometropia showed a significant increase of 2.8% with every year of aging (p<0.001); 2.6% and 2.8% were anisomyopic and anisohyperopic, respectively. The prevalence of anisometropia was directly associated with myopia (p<0.001) as well as a history of ocular trauma (p<0.001). The prevalence of anisoastigmatism was 5.6% and significantly increased with age (p<0.001).

Conclusion The prevalence of anisometropia in the studied population, compared to studies conducted in the Middle Eastern Region and East Asia, is in the midrange. The prevalence of anisometropia is higher at older age, however, children should receive more attention due to the risk of amblyopia. A history of ocular trauma is a risk factor for anisometropia.
Evaluation of MMP‐1 gene expression variants as a risk factors of primary open‐angle glaucoma
Authors: MAJSTEREK I , MARKIEWICZ L , PRZYBYLOWSKA K , GACEK M , KAMINSKA A , SZAFLIK J , SZAFLIK JP
Published: December 2011

Purpose Matrix metalloproteinases (MMPs) have been extensively studied as primary open‐angle glaucoma (POAG) risk factors. Recently, several single nucleotide polymorphisms (SNPs) for MMPs encoding genes have been reported in POAG patients. Especially, the −1607 1G/2G polymorphism present in promoter region of MMP‐1 gene may affect its expression level. The aim of this study was to investigate the expression level of MMP‐1polymorphicvariants in POAG patients group.

Methods In the present case‐control study we examined group of 232 POAG unrelated Caucasian patients (mean age 70±14) and 253 age, sex matched controls (mean age 67±16). The −1607 1G/2G MMP1 gene polymorphism was determined by polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated. The expression level of the −1607 1G/2G polymorphic variants of MMP1 gene was measured by real time q‐PCR.

Results A statistically significant increase of the 2G/2G genotype (OR 1.35; 95% CI 1.05‐1.67; P = 0.006) as well as the 2G allele frequency (OR 1.20; 95% CI 1.05‐1.37; P = 0.006) of MMP1 was found in POAG patients as compared to healthy controls. We observed statistically significant 8,32 fold higher expression level of the 2G/2G genotype as compared to the 1G/1G wild genotype (P < 0.001), either.

Conclusion In conclusion, we suggest that the expression of the −1607 2G/2G genotype of MMP‐1 may be considered as an important risk factor associated with primary open‐angle glaucoma. This work was supported by grants N N402 375838 and N N402 248936 from Polish Ministry of Science and Higher Education.
Clinical assessment and molecular genetics of an autosomal dominant retinitis pigmentosa in a Bulgarian Roma family
Authors: KOEV K , CHERNINKOVA S , GEORGIEV R , KANEVA R
Published: December 2011

Purpose To make a clinical assessment and molecular genetic analysis in patients with autosomal dominant form of retinitis pigmentosa (adRP) in a Bulgarian Roma family.

Methods Clinical assessment and genealogical analysis in a Bulgarian Roma family suggested the presence of RP with autosomal dominant inheritance with at least 12 affected in 4 generations. Best corrected visual acuity; kinetic Goldmann perimetry; direct and indirect ophthalmoscopy; ERG; fluorescein angiography. The molecular genetic analysis involved screening of 15 known adRP genes using microarray panel of Asper Biotech in the index patient.

Results T in exon 4 of the RP1 gene, leading to an amino acid substitution T373I was found in heterozygous condition.adRP is a severe and genetically heterogeneous retinal degeneration. We present a Bulgarian Roma family with typical clinical symptoms of RP and heterozygous change in the RP1 gene, which has previously been described as a possible disease causing mutation in a Pakistani family with adRP and in homozygous condition leading to a severe arRP in 2 consanguineous families of Pakistani origin.

Conclusion The clinical and genetic analysis of additional affected and unaffected family members is ongoing. This will allow better genotype‐phenotype correlations to be made.
Angioid streaks leading to the discovery of a new mutation in pseudoxanthoma elasticum
Authors: LOCATELLI A , ZUILY S , WAHL D , ANGIOI K
Published: December 2011

Purpose Discovery of angioid streaks can lead to the diagnosis of pseudoxanthoma elasticum (PXE), an unusual autosomal recessive genetic disorder. We report a new functional pathogenic mutation associated to phenotypic manifestations of the disease.

Methods A 35‐year old female was admitted for an etiologic work‐up of a diffuse juvenile arteriopathy. Fundus examination evidenced typical peripapillary angioid streaks that led to the diagnosis of PXE, confirmed by genetic analysis of the ABCC6 gene. Our patient was compound heterozygote for two heterozygous mutations: one at exon 24 (c.3421C>T, R1141X), the other at exon 17 (c.2153A>G, D718G) not described before. Among her siblings, her brother and one sister were compound heterozygotes for the two mutations and had vascular symptoms and angioid streaks as well. Her mother was heterozygous for the D718G mutation while her father was heterozygous for the R1141X mutation. Both were asymptomatic.

Results ABCC6 gene implication in PXE was first described in 2000. Pathological mutations are mostly located from exons 23 to 29. The R1141X mutation is already known to be associated with a strong increase in the prevalence of coronary artery disease. Our results highlight that the D718G mutation is functional and may have a pathogenic role mainly due to its segregation with the disease and genetic arguments (Grantham’s distance, damaging role related in the Polyphen tool online).

Conclusion Diagnosis of angioid streaks can lead to the diagnosis of PXE confirmed by genetic analysis. Examination of our patients allowed us to describe for the first time a new mutation of the ABCC6 gene (D718G), associated with the classical and recurrent R1141X mutation and with phenotypic manifestations of PXE.
Simulation and psychosomatic events in ophthalmology
Authors: CRETU I , BETERMIEZ P , MILAZZO S
Published: December 2011

Purpose The simulation is the act by which one seeks to mimic the symptoms of a disease with some ulterior motive. It occurs in people who seek to obtain compensation (through accident) or a legal or professional advantage. The simulation is to differentiate psychosomatic states requiring expertise neuro‐ophthalmological and psychiatric long and complex.

Methods This is a single‐center retrospective study, conducted over the past ten years, performed in Picardy to the Eye Clinic St Victor, CHU d'Amiens. We identified 13 patients with suspected nonorganic visual loss. Once these patients are identified, we analyzed their records eye. We illustrate by these observations the diagnostic difficulties in ophthalmology to remove the organic and definitely eliminate nonorganic origin.

Results Among the 13 clinical cases, 8 were referred for low vision, 2 for the deficit of the visual field and 3 for unexplained photophobia. These last three cases were found to be sunglass syndromes.Clinical, electrophysiological, psychosomatic features and testing strategies are discussed.

Conclusion The ophthalmologist may need to see in consultation for patients with eye symptoms whose origin is other than "psychogenic". The challenge is to make the diagnosis with certainty and eliminate organic disease. The ophthalmologist can make use of subjective or objective methods and diagnostic testing that help diagnose simulation. In addition, four pathological traps are often problematic. He must think systematically: Stargardt's disease, optic atrophy, moderate keratoconus beginner, the visual hemi‐neglect. Clinical examination and complementary examinations will say will affirm these diseases, which are difficult to diagnose early.
Spot the difference!The electrophysiological differentiation of retinal fleck and spot disorders
Authors: HOLDER GE
Published: December 2011

The lecture will discuss some of the causes of fleck or spot lesions in the retina, and use a case based approach to demonstrate the value of electrophysiological testing in their differential diagnosis.
We introduce the development of microkeratomes from the very early ages, with handmade and mechanical systems, until the fempto ‐ laser technology today
Authors: PALLIKARIS I
Published: December 2011

Abstract not provided
Anti‐VEGF for the treatment of retinal angiomatous proliferation
Authors: DATSERIS I
Published: December 2011

Abstract not provided
Anti‐VEGF for the treatment of serous and vascularized RPE detachment n exudative AMD
Authors: KAPETANIOS A
Published: December 2011

Choroidal neovascularization (CNV) associated with retinal pigment epithelial detachment (PED) in AMD is a subtype of AMD with a bad prognosis and a high risk of retinal pigment epithelium (RPE) tear. The efficacy of current treatment options is limited, and the anatomical and functional results are not favourable after both laser photocoagulation and photodynamic therapy (PDT). We will discuss the effect and outcome of anti‐VEGF intravitreal injection in treating CNV associated with PED in AMD.
Anti‐VEGF for the treatment of diabetic macular edema
Authors: POURNARAS JAC , MASSIN P
Published: December 2011

Purpose To assess efficacy and safety of intraocular injections of anti‐VEGF in patients with diabetic macular edema

Methods The gold standard for treatment has been laser coagulation. Limitations of this therapy are refractive DME, ischemic diabetic maculopathy and complications after laser application. The need for a non‐destructive and effective strategy has led to investigations regarding VEGF inhibitors for reduction of vessel leakage and oedema formation. Trials for different anti‐VEGF compounds are nearing completion or are completed. Data regarding dose, injection scheme and practicable application form are reviewed. Combination of laser therapy and anti‐VEGF will be reported.

Results For diabetic macular edema, trials of intravitreal pegaptanib and intravitreal ranibizumab have shown short‐term benefit in visual acuity. Intravitreal bevacizumab also has been shown to have beneficial short‐term effects on both visual acuity and retinal thickness. Furthermore, combined therapies shows promising results. Despite promising early reports on the safety of these medications, the results of large, controlled trials are still expected in order to substantiate the safety and efficacy of anti‐VEGF drugs for diabetic retinopathy.

Conclusion New therapeutic approaches based on intravitreal injections of anti‐VEGF molecules offer new hope for the management of diabetic macular edema. However, randomized studies are needed in order to attest longterm safety and efficacy profiles.
Anti‐VEGF for treatment of macular edema secondary to retinal vein occlusions
Authors: MENDRINOS E
Published: December 2011

Purpose To assess efficacy and safety of intraocular injections of 0.3 mg or 0.5 mg ranibizumab in patients with macular edema following branch and central retinal vein occlusion.

Methods Prospective, randomized, sham injection‐controlled, double‐masked, multicenter clinical trials. Six‐month (monthly injections) and one year (PRN) results of the BRAVO and CRUISE studies will be presented.

Results In the BRAVO study, mean change from baseline BCVA letter score at month 6 was 16.6 and 18.3 in the 0.3 mg and 0.5 mg ranibizumab groups and 7.3 in the sham group (P<0.0001). At 12 months, the corresponding change was 16.4, 18.3 and 12.1 letters respectively.The percentage of patients who gained > or =15 letters in BCVA at month 12 was 56% (0.3 mg) and 60.3% (0.5 mg) in the ranibizumab groups and 43.9% in the sham group; and CFT had decreased by a mean of 314 microm (0.3 mg) and 347 microm (0.5 mg) in the ranibizumab groups and 274 microm in the sham group). In the CRUISE study, mean change from baseline BCVA letter score at month 6 was 12.7 and 14.9 in the 0.3 mg and 0.5 mg ranibizumab groups, respectively, and 0.8 in the sham group (P<0.0001).At 12 months, the corresponding change was 13.9, 13.9 and 7.3 letters respectively.The percentage of patients who gained > or =15 letters in BCVA at month 12 was 47% (0.3 mg) and 50.8% (0.5 mg) in the ranibizumab groups and 33.1% in the sham group;CFT had decreased by a mean of 453 microm (0.3 mg) and 462 microm (0.5 mg) in the ranibizumab groups and 427 microm in the sham group).

Conclusion Intraocular injections of 0.3 mg or 0.5 mg ranibizumab provid rapid, effective treatment for macular edema following BRVO and CRVO with low rates of ocular and nonocular safety events
Azithromycin: intrinsic cytotoxic effects on corneal epithelial cell cultures
Authors: MENCUCCI R , PALADINI I , FAVUZZA E , SCARTABELLI T , MENCHINI U , PELLEGRINI GIAMPIETRO D
Published: December 2011

Purpose To compare the cytotoxic effects of preservative free azithromycin versus preservative free netilmycin and levofloxacin upon corneal epithelial cells in vitro.

Methods Corneal epithelial cells in vitro were incubated for 15 min and 6 hours with preservative free netilmycin or levofloxacin and different concentrations of unpreserved azithromycin. Qualitative analysis was performed by using phase contrast optics and examining the morphological aspects of cell cultures. Quantitative analysis was performed by measuring the release of cytoplasmic enzyme lactate dehydrogenase (LDH) into the medium immediately and 24 h after exposure to drugs. We also observed the wound healing rate of mechanically injured corneal epithelial cells cultured in each antibiotic preparation for 24 and 48 hours.

Results The unpreserved preparation of azithromycin up to a concentration of 1.5% showed a low cell toxicity, not significantly different from the other antibiotic preparations (p>0.05). Azithromycin did not inhibit the wound healing process after the mechanical injury.

Conclusion Under our experimental conditions, unpreserved azithromycin 1.5 % showed a low cytotoxicity and did not interphere with wound healing process.
Retinal evaluation by optical coherence tomography in adults with obstructive sleep apnea syndrome
Authors: CASAS P , ASCASO FJ , ADIEGO MI , JIMENEZ B , CABEZON L , CRUZ N , TEJERO‐GARCES G , CRISTOBAL JA
Published: December 2011

Purpose Obstructive sleep apnea syndrome (OSAS) is a common sleep and breathing disorder characterized by repeated episodes of hypoxemia.OSAS is associated with persistent neurocognitive injury that may be reflected in structural changes in certain brain regions. The aim of this study is to determine the peripapillary retinal nerve fiber layer (RNFL) thickness, macular thickness and volume by optical coherence tomography (OCT) in adults with OSAS in order to detect axonal injury in this population.

Methods Fourty‐nine eyes corresponding to 26 patients (mean age +/‐ SD: 50.8 +/‐ 12.7 years; range: 14‐75; female/male: 5/21) with newly discovered and previously untreated moderate to severe OSAS (apnea‐hypopnea index >15) were compared by OCT with a control group of twenty‐two eyes corresponding to 14 age‐matched healthy individuals (mean age +/‐ SD: 52.1 +/‐ 15.4 years; range: 14‐74; female/male: 7/7), measuring peripapillary RNFL thickness, macular thickness and volume, and optic nerve head (ONH) parameters.

Results OSAS patients revealed a significantly lower RNFL thickness in the nasal part of the optic disc (74.6±13.5 µm, range: 47‐100) compared to controls (83.2±14.7 µm, range: 56‐107) (p=0.015). OSAS patients also showed a decreased macular thickness in the outer nasal ring (250.7±13.6 µm, range: 227‐280) compared to controls (265.5±4.9 µm, range: 265‐272) (p=0.05). Other OCT measurements did not show any differences.

Conclusion OSAS was associated with a decreased peripapillary RNFL and macular thickness in the nasal quadrants. Therefore, it might be a biomarker of this disease.
Effect of swelling on the ultra‐structure of camel corneal stroma
Authors: AKHTAR S , KHAN F , AHMED M , ALMUBRAD T
Published: December 2011

Purpose Previous studies have shown the swelling characteristics of camel cornea. Here we investigate the changes in the architecture of corneal stroma due to swelling.

Methods Six fresh camel corneal buttons (8.5mm) were hydrated separately in deionised water for 24hrs and 48hrs. The change in hydration of corneal stroma was calculated per unit weight. Hydrated corneas were fixed in 2.5% glutaraldehyde containing cuprolinic blue in sodium acetate buffer to analyse the distribution of proteoglycans (PGs). To analyse the collagen fibril diameter and spacing, tissue were fixed in para‐formaldehyde (4%) in 0.1M buffer and embedded in LR White.

Results The hydration of corneal stroma after 24hrs and 48hrs was 54 per unit weight and 56 per unit weight respectively. The anterior part of the stroma was less affected by swelling compared to middle and posterior stroma. Stromal lamellae were disorganised with collagen fibrils running in random directions. Most of the keratocytes were disappeared, a small number present showed cell organelles. Throughout the stroma, PGs were rounded in shape instead of normal filaments. The PGs in the pre‐Descemet’s stroma were larger compared to anterior and middle stroma. The spacing between the collagen fibril had increased significantly, but the diameter was not affected in the anterior stroma.

Conclusion Our study shows that camel cornea has a rather high hydration during the first 24 hrs. After 24hrs, hydration is comparatively low. Hydration of the cornea affects the uniform distribution of collagen fibrils and proteoglycans.
Mesenchymal‐like stem cells from human corneal stroma grown in medium containing human serum as the only supplement
Authors: ALBERT R , VEREB Z , MOE MC , FESUS L , RAJNAVOLGYI E , FACSKO A , BERTA A , PETROVSKI G
Published: December 2011

Purpose Besides bone marrow, mesenchymal stem cells (MSCs) can be separated from various tissues including the cornea. We investigated whether human corneal stroma‐derived cells resemble MSCs and if they can be grown in animal‐materials free medium containing human serum as the only supplement.

Methods Human cornea stromal cells were isolated from cadavers after removal of the epithelial and endothelial layers (approved by the Hungarian Regional Ethical Committee). The cells were grown in DMEM containing human serum as the only supplement. Immunophenotyping with MSC markers, integrins/cell‐adhesion‐, endothelial‐ and hematopoietic markers was carried out by FACS analysis. Standard manufacturer protocols were used for differentiating the cells into fat, cartilage or bone.

Results Cells isolated from human corneal stroma grew as monolayers in vitro and could be maintained in culture for more than 10 passages (n=6). They expressed the most important markers for MSCs (CD73, CD90, CD105, CD44, CD147, PDGFRb) and were negative for the hematopoietic markers CD34, CD45, HLA‐DR, CD69 and CD133. High per cent of the cells expressed the pluripotency markers CD117, C‐kit and CD47, but not the endothelial cell markers CD31, CD105/V‐CAM, VEGFR2. One of the hallmarks of human MSCs being capable to differentiate towards adipocytes, chondrocytes and osteocytes could also be demonstrated.

Conclusion Our results indicate the presence of MSC‐like cells in the human corneal stroma, which can be grown in human serum‐containing medium. This opens the door for studying human keratopathies, as well as corneal tissue engineering and cell‐based therapies.
Retinal nerve fiber layer thickness measured by
Authors: CABEZON L , ASCASO FJ , RAMIRO P , JIMENEZ B , PEREZ D , CASAS P , CRUZ N , CRISTOBAL JA
Published: December 2011

Purpose Our study aims to assess retinal nerve fiber layer (RNFL) thickness in patients affected by schizophrenia

Methods Ten schizophrenic patients were enrolled.They were compared with 10 age‐matched controls. In all subjects, optic nerve head measurements, peripapillary RNFL thickness, macular thickness and volume were measured by optical coherence tomography.

Results Schizophrenic patients showed an statistically significant reduction of the overall RNFL thickness compared with those values observed in control eyes. We also observed reduced peripapillary RNFL thickness in nasal quadrant in schizophrenic patients when compared with controls. The remaining peripapillary RNFL quadrants, macular thickness and volume did not reveal differences between both groups. No statistically significant differences were observed between control group and schizophrenia patients with regard to ONH measurements, macular thickness and volume.

Conclusion Schizophrenia patients had a reduction of peripapillary RNFL thickness evaluated by OCT. To our knowledge, neither reduced RNFL thickness nor macular thickness and volume have been previously documented in patients diagnosed with schizophrenia. These findings suggest that neuronal degeneration could be present in the retina of schizophrenic patients as previously observed in neurodegenerative disorders.
Ocular rigidity: Review of measurement methods and its implications in clinical practice
Authors: PALLIKARIS IG
Published: December 2011

Ocular rigidity is a parameter that characterizes the biomechanical behavior of the eye. Different measurement techniques have been adopted to quantify this parameter. Invasive measurements in experimental animals have provided initial information on the pressure‐volume relation, followed by manometric volumetric and tonographic techniques used in cadaver and living human eyes. Schiotz tonometry with different weights has been employed as a non‐invasive method of quantifying ocular rigidity. Other surrogate measures of ocular rigidity have also been used, incorporating fundus pulsation amplitude and choroidal blood volume. In order to approximate the pressure volume relationship, a variety of different mathematical formulations have been employed. Based on available data, ocular volume, age, intraocular pressure, arterial pressure and ocular blood volume have been identified as parameters that affect ocular rigidity. Moreover, there is mounting evidence in the literature that ocular rigidity may be implicated in the pathogenesis of ocular disease. However, its exact role as well as the underlying pathogenetic mechanisms remain to be elucidated.