The plant cell wall responds dynamically during interaction with various pathogens. Upon recognition of "nonself" components, plant cells deploy a variety of immune responses including cell wall fortification. Callose, a β-(1, 3)-D-glucan polymer, is a component of the material deposited at the site of infection between the plasma membrane and the preexisting cell wall that is hypothesized to serve as a physical barrier and platform for directed antimicrobial compound deposition.
View Article and Find Full Text PDFThe choroid is the most vascular tissue in the eye and it has been implicated in the pathophysiology of a variety of ocular diseases. A new era of research in the choroid began with the improved ability to visualize this layer and its inner and outer boundaries using spectral domain optical coherence tomography (OCT) with enhanced depth imaging and swept source OCT. The accuracy and precision of qualitative and quan-titative assessments of the choroidal layer support the potential use of OCT-derived choroidal parameters for diagnosis, monitoring of disease progression, planning surgical access, and evaluating treatment response.
View Article and Find Full Text PDFHeight is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.
View Article and Find Full Text PDFPurpose: To outline and detail the importance of conditional probability in clinical decision making and discuss the various diagnostic measures eye care practitioners should be aware of in order to improve the scope of their clinical practice.
Methods: We conducted a review of the importance of conditional probability in diagnostic testing for the eye care practitioner.
Results: Eye care practitioners use diagnostic tests on a daily basis to assist in clinical decision making and optimizing patient care and management.
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk.
View Article and Find Full Text PDFPurpose: To illustrate altered fundus autofluorescence in rubella retinopathy and to investigate their relationships with photoreceptor structure and function using multimodal imaging.
Methods: The authors report four cases of rubella retinopathy aged 8, 33, 42, and 50 years. All patients had dilated clinical fundus examination; wide-field color photography; blue, green, and near-infrared autofluorescence imaging and spectral domain optical coherence tomography.
Purpose: To assess the difference in severity of disease in primary open-angle glaucoma (POAG) patients with a Myocilin (MYOC) disease-causing variant who presented through normal clinical pathways (Clinical cases) versus those who were examined following genetic testing (Genetic cases).
Design: Retrospective clinical and molecular study.
Participants: Seventy-three MYOC mutation carriers identified through the Australian and New Zealand Registry of Advanced Glaucoma.
Mol Genet Genomic Med
November 2016
Background: Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG.
Methods: Participants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis.
The Marshall Parks Lecture 2015, entitled "Myopia-The future progression of myopia: Seeing where we are going," was presented by Professor David A. Mackey at the American Academy of Ophthalmology meeting held in Las Vegas in November 2015.
View Article and Find Full Text PDFReactive oxygen species (ROS) are by-products of photosynthesis and respiration in plant tissues. Abiotic and biotic stressors also induce the production and temporary accumulation of ROS in plants, including hydrogen peroxide (HO), whereby they can act as secondary messengers/chemical mediators in plant defense signaling and lead to programmed cell death. HO acts as a hub for critical information flow in plants.
View Article and Find Full Text PDFBackground: The aim was to investigate the characteristics and outcomes of ocular and adnexal injuries requiring hospitalisation in children in Perth, Western Australia.
Methods: This is a hospital-based retrospective review of children admitted to Princess Margaret Hospital for Children with diagnoses of ocular and/or adnexal trauma from 2002-2013. Hospital charts were reviewed for demographic information, injury and management details, follow-up and visual outcome.
Previous studies have identified many genetic loci for refractive error and myopia. We aimed to investigate the effect of these loci on ocular biometry as a function of age in children, adolescents, and adults. The study population consisted of three age groups identified from the international CREAM consortium: 5,490 individuals aged <10 years; 5,000 aged 10-25 years; and 16,274 aged >25 years.
View Article and Find Full Text PDFQuantification of sun-related changes in conjunctival ultraviolet autofluorescence (CUVAF) images is a subjective and tedious task, in which reproducibility of results is difficult. Thus, we have developed a semiautomatic method in MATLAB(®) to analyze CUVAF images retrospectively. The algorithm was validated on 200 images from 50 randomly selected participants from the Western Australian Pregnancy Cohort (Raine) study 20-year follow-up assessment, in which CUVAF area measurements were available from previous manual analysis.
View Article and Find Full Text PDFGraefes Arch Clin Exp Ophthalmol
December 2016
Background: Giant cell arteritis (GCA) is a systemic granulomatous vasculitis, primarily affecting medium-large arteries. It has a predilection for the aorta and its major branches, including the carotid and vertebral arteries. Ophthalmic artery involvement frequently leads to irreversible visual loss, and therefore GCA is one of the few true ophthalmic emergencies.
View Article and Find Full Text PDFAsia Pac J Ophthalmol (Phila)
January 2017
Leber hereditary optic neuropathy has now joined Leber congenital amaurosis in the list of genetic eye diseases undergoing gene therapy clinical trials. Although a dramatic response to treatment would be welcome, a minor improvement in vision is a major challenge in efficacy assessment, given this may occur spontaneously as part of the natural history of minor recovery in some patients. Thus, we must await the outcome of adequately powered clinical trials to know if the treatment is effective, particularly given the likely high cost of such therapeutic interventions in the future.
View Article and Find Full Text PDFPurpose: Many genome-wide association studies have identified common single nucleotide polymorphisms (SNPs) at the 9p21 glaucoma locus (CDKN2B/CDKN2B-AS1) to be significantly associated with primary open-angle glaucoma (POAG), with association being stronger in normal tension glaucoma (NTG) and advanced glaucoma. We aimed to determine whether any observed differences in genetic association at the 9p21 locus are influenced by sex.
Methods: Sex was assessed as a risk factor for POAG for 2241 glaucoma participants from the Australian and New Zealand Registry of Advanced Glaucoma, the Glaucoma Inheritance Study in Tasmania, and the Flinders Medical Centre.
The ability to generate human induced pluripotent stem cells (iPSCs) has opened new avenues for human disease modelling and therapy. The aim of our study was to determine research participants' understanding of the information given when donating skin biopsies for the generation of patient-specific iPSCs. A customised 35-item questionnaire based on previous iPSC consent guidelines was sent to participants who had previously donated samples for iPSC research.
View Article and Find Full Text PDFPrimary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated intraocular pressure (IOP); however, the genes and molecular mechanisms involved in the etiology of these defects have not been fully characterized. Previously, we observed PCG-like phenotypes in transgenic mice that lack functional angiopoietin-TEK signaling.
View Article and Find Full Text PDFPrimary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are leading causes of irreversible blindness. Several loci have been mapped using genome-wide association studies. Until very recently, there was no recognized overlap in the genetic contribution to AMD and POAG.
View Article and Find Full Text PDFTo establish infection, pathogens deliver effectors into host cells to target immune signaling components, including elements of mitogen-activated protein kinase (MPK) cascades. The virulence function of AvrRpt2, one of the first identified Pseudomonas syringae effectors, involves cleavage of the plant defense regulator, RPM1-INTERACTING PROTEIN4 (RIN4), and interference with plant auxin signaling. We show now that AvrRpt2 specifically suppresses the flagellin-induced phosphorylation of Arabidopsis (Arabidopsis thaliana) MPK4 and MPK11 but not MPK3 or MPK6.
View Article and Find Full Text PDFBacterial AvrE-family Type-III effector proteins (T3Es) contribute significantly to the virulence of plant-pathogenic species of Pseudomonas, Pantoea, Ralstonia, Erwinia, Dickeya and Pectobacterium, with hosts ranging from monocots to dicots. However, the mode of action of AvrE-family T3Es remains enigmatic, due in large part to their toxicity when expressed in plant or yeast cells. To search for targets of WtsE, an AvrE-family T3E from the maize pathogen Pantoea stewartii subsp.
View Article and Find Full Text PDFEach year an estimated 3.3 to 5.7 million pediatric eye injuries occur worldwide.
View Article and Find Full Text PDFMyopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors.
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