Sudden Bilateral Choroidal Detachment in a Patient with Posterior Reversible Encephalopathy Syndrome

BACKGROUND: Pre-eclampsia is one of the most important causes of a rare cliniconeuroradiological entity called posterior reversible encephalopathy syndrome. The syndrome is characterized by headacke, visual disturbances, seizures, altered mental status and radiological findings of edema in the white matter of the brain areas perfused by the posterior brain circulation.CASE REPORT: Here we present a patient with sudden bilateral visual loss and deafness in early postnatal period without any other neurological deficits, but with affiliated ophthalmological pathology. The correct diagnosis was made 3 days after the Cesarean section.The patient was diagnosed with posterior reversible encephalopathy syndrome and bilateral choroidal detachment.CONCLUSION: Vascular changes in posterior reversible encephalopathy syndrome can cause visual disturbances not only by brain edema, but combined brain and ocular pathology

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25610-8), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genomewide significant association

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

It is a longstanding puzzle why non-coding variants in the complement factor H (CFH) gene are more strongly associated with age-related macular degeneration (AMD) than functional coding variants that directly influence the alternative complement pathway. The situation is complicated by tight genetic associations across the region, including the adjacent CFH-related genes CFHR3 and CFHR1, which may themselves influence the alternative complement pathway and are contained within a common deletion (CNP147) which is associated with protection against AMD. It is unclear whether this association is mediated through a protective effect of low plasma CFHR1 concentrations, high plasma CFH or both. We examined the triangular relationships of CFH/CFHR3/CFHR1 genotype, plasma CFH or CFHR1 concentrations and AMD susceptibility in combined case–control (1256 cases, 1020 controls) and cross-sectional population (n = 1004) studies and carried out genome-wide association studies of plasma CFH and CFHR1 concentrations. A non-coding CFH SNP (rs6677604) and the CNP147 deletion were strongly correlated both with each other and with plasma CFH and CFHR1 concentrations. The plasma CFH-raising rs6677604 allele and raised plasma CFH concentration were each associated with AMD protection. In contrast, the protective association of the CNP147 deletion with AMD was not mediated by low plasma CFHR1, since AMD-free controls showed increased plasma CFHR1 compared with cases, but it may be mediated by the association of CNP147 with raised plasma CFH concentration. The results are most consistent with a regulatory locus within a 32 kb region of the CFH gene, with a major effect on plasma CFH concentration and AMD susceptibility

Results of the hyperopia analyses in the regions that were significantly associated with myopia age at onset by Kiefer <i>et al.</i>[18] showing meta-analysis association results for each chosen SNP.

<p>1. SNPs which are either genome-wide significant or meet our replication threshold are highlighted in bold text. Allele frequencies for these SNPs in each of our discovery populations can be found in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0107110#pone.0107110.s018" target="_blank">Table S8</a>.</p><p>2. For each SNP reported by Kiefer <i>et al. </i>, Replication P value is the P value of that SNP in our analysis. If that SNP was not genotyped or imputed in our data, it is indicated with N/A.</p><p>3. For regions where the most significant SNP in our analysis is not the original reported SNP, that SNP is reported as Best SNP.</p><p>4. Offset is the absolute distance in base pairs to the original SNP and the P value associated with Best SNP.</p><p>5. Z scores and direction of effect for all SNPs are in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0107110#pone.0107110.s012" target="_blank">Table S2</a>.</p><p>6. This column left blank where the original SNP is the most significant SNP in the region.</p><p>7. Nearest Gene(s) indicates the closest gene by physical position for these SNPs.</p><p>Results of the hyperopia analyses in the regions that were significantly associated with myopia age at onset by Kiefer <i>et al.</i><a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0107110#pone.0107110-Kiefer1" target="_blank">[18]</a> showing meta-analysis association results for each chosen SNP.</p

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.

Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers

Baseline Characteristics of the nine populations.

<p>1. For myopia, cases were defined as MSE <−1D, controls>0D and individuals between 0D and −1D coded as unknown.</p><p>2. Average MSE of all cases or controls used in the analyses.</p><p>3. For hyperopia, cases were defined as MSE>+1D, controls <0D and individuals between 0D and +1D coded as unknown.</p><p>Baseline Characteristics of the nine populations.</p

Q-Q and Manhattan Plots for the myopia analysis excluding the ERF cohort a) Q–Q plot for association between all SNPs analyzed and myopia in the meta-analysis excluding the ERF cohort.

<p>Each dot represents an observed statistic (defined as -log10 P) versus the corresponding expected statistic. The red line corresponds to the null distribution. b) Manhattan plot for association between all SNPs analyzed and myopia in the meta-analysis excluding the ERF cohort. Each dot represents an observed statistic (defined as -log10 P). The darker gray line corresponds to the genome-wide significance threshold and the lighter gray line represents the suggestive threshold.</p