Ocular Symptomatology, Management, and Clinical Outcome of a Giant Intracranial Aneurysm

Giant aneurysms of the anterior intracranial circulation are rare, slowly progressive vascular abnormalities, often presenting with neuro-ophthalmological symptoms before they rupture. This is a case of a 55-year-old woman with a double aneurysm of the anterior intracranial circulation, part of which was giant, diagnosed exclusively on the basis of ocular manifestations. We also describe successful management of the case throughout a long follow-up period

Intravitreal Bevacizumab for Photodynamic Therapy-Induced Massive Macular Detachment in Acute Central Serous Chorioretinopathy

We present a long followed up case of acute central serous chorioretinopathy (CSC) complicated by a severe visual loss due to massive pigment epithelium detachment of the macula after a full-dose photodynamic therapy (PDT). Rapid anatomical and functional improvement was observed after a single intravitreal injection of bevacizumab. To our knowledge, we report the first case of PDT-treated CSC complicated by severe visual loss. We can only speculate that the serous detachment of the posterior pole might have been caused by PDT-induced VEGF overexpression, explaining such an impressive response to Avastin treatment

Ocular disorders as the prevailing manifestations of antiphospholipid syndrome: a case series

Introduction: Antiphospholipid syndrome is an autoimmune disorder characterized by either a history of vascular thrombosis (one or more clinical episodes of arterial, venous, or small vessel thrombosis in any tissue or organ) or pregnancy morbidity in association with the presence of antiphospholipid antibodies. The systemic features of the syndrome are characterized by large variability depending on the affected organ(s). Among them, neurological and behavioural disturbances, dermatological features as livedo reticularis and renal, ocular, liver or valvular heart manifestations have been reported in antiphospholipid syndrome patients. However, studies on the frequency and clinical presentation of the ocular manifestations as the prevailing (first) sign of antiphospholipid syndrome in patients suffering from "unexplained" ocular disease are missing. Herein, we present three cases suffering from unexplained ocular disease as first manifestation of antiphospholipid syndrome. Case presentation: All the three patients were referred to our department because of unexplained ocular features from the anterior or posterior segment and unexplained neuroophthalmologic symptoms. The first patient had bilateral retinal occlusive disease, the second and the third patient had unilateral nonarteritic anterior ischemic optic neuropathy with macular oedema. Moderate to high levels of antiphospholipid antibodies were detected in all of them at baseline as well as 6 to 12 weeks after initial testing confirming the presence of antiphospholipid antibodies. Anticoagulant treatment with acenocoumarol was instituted resulting in stabilization and/or improvement of ocular signs in all of them. Conclusion: Due to the important diagnostic and therapeutic implications of antiphospholipid syndrome, the possibility of ocular features as the first clinical manifestation of antiphospholipid syndrome should be kept in mind of the physicians particularly in patients with no evident risk factors for ocular disease. In this case, prompt anticoagulant treatment and close follow-up seem to be essential for vision salvation and stabilization. © 2009 Tsironi et al; licensee BioMed Central Ltd

European ST80 community-associated methicillin-resistant Staphylococcus aureus orbital cellulitis in a neonate

<p>Abstract</p> <p>Background</p> <p>Methicillin-resistant <it>Staphylococcus aureus</it> is a serious cause of morbidity and mortality in hospital environment, but also, lately, in the community. This case report is, to our knowledge, the first detailed description of a community-associated methicillin-resistant <it>S. aureus</it> ST80 orbital cellulitis in a previously healthy neonate. Possible predisposing factors of microbial acquisition and treatment selection are also discussed.</p> <p>Case presentation</p> <p>A 28-day-old Caucasian boy was referred to our hospital with the diagnosis of right orbital cellulitis. His symptoms included right eye proptosis, periocular edema and redness. Empirical therapy of intravenous daptomycin, rifampin and ceftriaxone was initiated. The culture of pus yielded a methicillin-resistant <it>S. aureus</it> isolate and the molecular analysis revealed that it was a Panton-Valentine leukocidine-positive ST80 strain. The combination antimicrobial therapy was continued for 42days and the infection was successfully controlled.</p> <p>Conclusions</p> <p>Clinicians should be aware that young infants, even without any predisposing condition, are susceptible to orbital cellulitis caused by community-associated methicillin-resistant <it>S. aureus.</it> Prompt initiation of the appropriate empirical therapy, according to the local epidemiology, should successfully address the infection, preventing ocular and systemic complications.</p

The role of homocysteine in the pathogenesis of different types of glaucoma: biochemical and genetic analysis

Glaucoma is one of the leading causes of blindness worldwide. It is a progressive optic neuropathy characterized anatomically by thinning of the retinal nerve fibre layer at the optic nerve head and clinically by gradual development of visual field defects. The purpose of this study was to investigate plasma homocysteine levels and polymorphisms in genes encoding enzymes in the metabolic pathway of homocysteine in association with primary open- angle glaucoma and pseudoexfoliation glaucoma, which are the commonest types of glaucoma in Greece. A total of 156 patients (76 patients with primary open-angle glaucoma and 80 with pseudoexfoliation glaucoma) and 135 age and sex - matched controls were enrolled in the study. Plasma homocysteine levels were measured using the commercially available ELISA kit. DNA was extracted from peripheral blood leucocytes and real-time PCR was used to genotype the samples. Patients were genotyped for 3 single nucleotide polymorphisms: rs1801131 and rs1801133 at the MTHFR gene and rs8006686 at the MTHFD1. Homocysteine levels were higher in those with disease as compared to controls and there was a larger difference in homocysteine levels between the pseudoexfoliation glaucoma group and controls. However, the results were not statistically significant. The minor alleles of the MTHFR polymorphisms were in the protective direction for primary open-angle glaucoma, while they showed increased risk of pseudoexfoliation glaucoma, but none of these associations reached statistical significance (p>0.05). The minor allele of MTHFD1 rs8006686 showed a trend of increased risk of both disease groups, but was not significant (p>0.05). No statistical interaction was seen between the genetic variants and homocysteine levels (p>0.05). In conclusion, neither polymorphism from genes involved in the pathway of homocysteine metabolism nor measured homocysteine levels were shown to be associated with either primary open-angle glaucoma or pseudoexfoliation glaucoma in the cohort examined.Το γλαύκωμα, μια από τις σημαντικότερες αιτίες τύφλωσης παγκοσμίως, είναι μια εξελισσόμενη εκφυλιστική παθηση του οπτικού νεύρου που χαρακτηρίζεται ανατομικά από λέπτυνση της στιβάδας των νευρικών ινών του αμφιβληστροειδούς και διάβρωση της κεφαλής του οπτικού νεύρου και κλινικά από προοδευτική απώλεια των οπτικών πεδίων. Με τη μελέτη αυτή επιχειρείται να διερευνηθεί ο ρόλος της ομοκυστεΐνης στην παθογένεια του πρωτοπαθούς γλαυκώματος ανοικτής γωνίας και του ψευδοαποφολιδωτικού γλαυκώματος, τα οποία αποτελούν τους συχνότερα απαντώμενους τύπους γλαυκώματος στην Ελλάδα. Συμμετείχαν 156 ασθενείς (76 με πρωτοπαθές γλαύκωμα ανοικτής γωνίας και 80 με ψευδοαποφολιδωτικό γλαύκωμα) και 135 μάρτυρες αντίστοιχης ηλικίας και φύλου. Μετρήθηκε η ομοκυστεΐνη πλάσματος και ακολούθησε αποτύπωση του γονοτύπου για τρεις σημειακούς γενετικούς πολυμορφισμούς ενζύμων του μεταβολισμού της ομοκυστεΐνης. Πρόκειται για τους πολυμορφισμούς rs1801131 και rs1801133 του γονιδίου της ρεδουκτάσης του μεθυλτετραϋδροφολικού (MTHFR) και έναν πολυμορφισμό (rs8006686) του γονιδίου της αφυδρογονάσης του μεθυλτετραϋδροφολικού (MTHFD1). Τα επίπεδα ομοκυστεΐνης βρέθηκαν αυξημένα στους ασθενείς σε σύγκριση με τους μάρτυρες, ιδίως στην ομάδα του ψευδοαποφολιδωτικού γλαυκώματος, ωστόσο τα ευρήματα δεν ήταν στατιστικώς σημαντικά. Τα ελάσσονα αλλήλια των πολυμορφισμών του γονιδίου της MTHFR έδειξαν προστατευτική τάση για το πρωτοπαθές γλαύκωμα ανοικτής γωνίας και τάση για αυξημένο κίνδυνο για το ψευδοαποφολιδωτικό γλαύκωμα, ωστόσο αυτές οι συσχετίσεις δεν ήταν στατιστικώς σημαντικές (p>0.05). Ομοίως, δεν διαπιστώθηκε στατιστικώς σημαντική συσχέτιση για το έλασσον αλλήλιο του γονιδίου MTHFD1, παρ’ ότι υπήρξε τάση για αυξημένο κίνδυνο και στις δύο κατηγορίες ασθενών (p>0.05). Τέλος, δεν βρέθηκε αλληλεπίδραση μεταξύ των γενετικών πολυμορφισμών και των επιπέδων ομοκυστεΐνης (p>0.05). Συμπερασματικά, στις υπό εξέταση ομάδες ασθενών, ούτε τα επίπεδα ομοκυστεΐνης, ούτε οι τρεις γενετικοί πολυμορφισμοί παρουσίασαν στατιστικώς σημαντική συσχέτιση με την εμφάνιση γλαυκώματος

FLT1 Genetic Variation Predisposes to Neovascular AMD in Ethnically Diverse Populations and Alters Systemic FLT1 Expression

PURPOSE. Current understanding of the genetic risk factors for age-related macular degeneration (AMD) is not sufficiently predictive of the clinical course. The VEGF pathway is a key therapeutic target for treatment of neovascular AMD; however, risk attributable to genetic variation within pathway genes is unclear. We sought to identify single nucleotide polymorphisms (SNPs) associated with AMD within the VEGF pathway. METHODS. Using a tagSNP, direct sequencing and meta-analysis approach within four ethnically diverse cohorts, we identified genetic risk present in FLT1, though not within other VEGF pathway genes KDR, VEGFA, or VASH1. We used ChIP and ELISA in functional analysis. RESULTS. The FLT1 SNPs rs9943922, rs9508034, rs2281827, rs7324510, and rs9513115 were significantly associated with increased risk of neovascular AMD. Each association was more significant after meta-analysis than in any one of the four cohorts. All associations were novel, within noncoding regions of FLT1 that do not tag for coding variants in linkage disequilibrium. Analysis of soluble FLT1 demonstrated higher expression in unaffected individuals homozygous for the FLT1 risk alleles rs9943922 (P=0.0086) and rs7324510 (P=0.0057). In silico analysis suggests that these variants change predicted splice sites and RNA secondary structure, and have been identified in other neovascular pathologies. These data were supported further by murine chromatin immunoprecipitation demonstrating that FLT1 is a target of Nr2e3, a nuclear receptor gene implicated in regulating an AMD pathway. CONCLUSIONS. Although exact variant functions are not known, these data demonstrate relevancy across ethnically diverse genetic backgrounds within our study and, therefore, hold potential for global efficacy

Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS

We investigated the association of specific polymorphisms of the interleukin IL-1b (AvaI -511 and TaqI +3,953) and IL-1 receptor antagonist (IL-1RN) (a variable number of tandem repeats; VNTR) genes with both the susceptibility to and the clinical characteristics in Greek multiple sclerosis (MS) patients cohort with bout-onset. Genotypes were determined from 351 patients with clinically definite MS and 375 age- and sex-matched healthy controls. Our results showed no significant differences in the distribution of these polymorphisms between MS patients and controls. Furthermore, stratification for clinical characteristics, such as age at disease onset, clinical course, sex, and severity did not provide significant differences between patients and controls. Together, our findings suggest that IL-1B and IL-1RN gene polymorphisms may not be relevant to the susceptibility to MS or the clinical characteristics of Greek MS patients

Perimetric and retinal nerve fiber layer findings in patients with Parkinson's disease

Background: Visual dysfunction is common in Parkinson's disease (PD). It remains, however, unknown whether it is related to structural alterations of the retina. The aim of this study is to compare visual field (VF) findings and circumpapillary retinal nerve fiber layer (RNFL) thickness in a series of PD patients and normal controls, in order to assess possible retinal anatomical changes and/or functional damage associated with PD. Methods: PD patients and controls were recruited and underwent VF testing with static automated perimetry and RNFL examination with optical coherence tomography (OCT). Cognitive performance using Mini Mental State Examination (MMSE), PD staging using modified Hoehn and Yahr (H-Y) scale and duration of the disease was recorded in PD patients. Results: One randomly selected eye from each of 24 patients and 24 age-matched controls was included. OCT RNFL thickness analysis revealed no difference in the inferior, superior, nasal or temporal sectors between the groups. The average peripapillary RNFL was also similar in the two groups. However, perimetric indices of generalized sensitivity loss (mean deviation) and localized scotomas (pattern standard deviation) were worse in patients with PD compared to controls (p < 0.01). 73% of eyes of PD patients had glaucomatous-like asymmetrical hemifield defects with abnormal Glaucoma Hemifield Test and various combinations of arcuate defects (n = 12), nasal steps (n = 11) and paracentral scotomas (n = 16). Bilateral defects were found in 14 patients (58%). No correlation was found between VF indices and MMSE or H-Y scores. Conclusion: PD patients may demonstrate glaucomatous-like perimetric defects even in the absence of decreased RNFL thickness