Ophthalmology, Eye and Vision Research Collected Works
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The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
(Elsevier, 2019-04-04)The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant’s clinical significance might be reinterpreted over time as new evidence ... -
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent
(Public LIbrary of Science, 2018-06-20)Many genes have been suggested as candidate genes for keratoconus based on their function, their proximity to associated polymorphisms or due to the identification of putative causative variants within the gene. However, ... -
Influence of the time of day on axial length and choroidal thickness changes to hyperopic and myopic defocus in human eyes
(Elsevier, 2019-03-26)Research in animal models have shown that exposing the eye to positive or negative spectacle lenses can lead to predictable changes in eye growth. Recent research indicates that brief periods (1–2 h) of monocular defocus ... -
Macular GCIPL loss precedes peripapillary RNFL loss in glaucoma with lower intraocular pressure
(Elsevier, 2019-03-22)Purpose To investigate which clinical measures influence whether an individual demonstrates earliest glaucomatous structural progression on peripapillary retinal nerve fibre layer (pRNFL) or macular ganglion cell-inner ... -
Genetic polymorphism of the methotrexate transporter ABCG2, blood pressure and markers of arterial function in patients with rheumatoid arthritis: repeated cross-sectional study
(Dove Press, 2018-11-12)Purpose: Methotrexate (MTX) treatment is associated with lower blood pressure (BP) and arterial stiffness in rheumatoid arthritis (RA). We investigated associations between single-nucleotide polymorphism (SNP) of the ... -
Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance
(Public Library of Science, 2018-12-05)Purpose The ganglion cell analysis (GCA) of the CIRRUSTM HD-OCT (Carl Zeiss, Meditec; Dublin, CA) provides measurement of the macular ganglion cell-inner plexiform layer (GCIPL) thickness. This study determined the ... -
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
(Springer Nature, 2018-05-14)Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. ... -
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
(American Medical Association, 2019-01-17)Importance Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly ... -
Lack of cone mediated retinal function increases susceptibility to form-deprivation myopia in mice
(Elsevier, 2018-12-31)Retinal photoreceptors are important in visual signaling for normal eye growth in animals. We used Gnat2cplf3/cplf3 (Gnat2−/−) mice, a genetic mouse model of cone dysfunction to investigate the influence of cone signaling ... -
Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation
(Taylor & Francis Group, 2019-01-02)Purpose: Stability of the crystalline lens requires formation of microfibril bundles and their higher-order structures of ciliary zonules. Trauma, malformation, or degeneration of the ciliary zonules can lead to dislocation ... -
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy
(Molecular Vision, 2018-07-21)Purpose Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in ... -
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka
(Wiley, 2018-04-05)Background: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous ... -
Identification and In Vitro Expansion of Buccal Epithelial Cells
(SAGE Publications, 2018-06-01)Ex vivo-expanded buccal mucosal epithelial (BME) cell transplantation has been used to reconstruct the ocular surface. Methods for enrichment and maintenance of BME progenitor cells in ex vivo cultures may improve the ... -
Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign
(ARVO Journals, 2018-02-15)Purpose: Leukocoria is the most common presenting sign for pediatric eye disease including retinoblastoma and cataract, with worse outcomes if diagnosis is delayed. We investigated whether individuals could identify ... -
Angiogenic and Immunologic Proteins Identified by Deep Proteomic Profiling of Human Retinal and Choroidal Vascular Endothelial Cells: Potential Targets for New Biologic Drugs
(Elsevier, 2018-03-17)Purpose Diseases that involve retinal or choroidal vascular endothelial cells are leading causes of vision loss: age-related macular degeneration, retinal ischemic vasculopathies, and noninfectious posterior uveitis. ... -
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
(Springer Nature, 2018-07-27)Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide. Both IOP and POAG are highly heritable. We report a combined ... -
Letter to the Editor: Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis
(Wiley, 2018-05-08)"No abstract is available for this article"- Publisher -
A Comparison of Measures of Endothelial Function in Patients with Peripheral Arterial Disease and Age and Gender Matched Controls
(Hindawi, 2016-01-31)This study compared flow-mediated dilatation (FMD), peripheral artery tonometry (PAT), and serum nitric oxide (NO) measures of endothelial function in patients with peripheral artery disease (PAD) against age/gender matched ... -
The Australian Corneal Graft Registry 2018 Report
(South Australian Health and Medical Research Institute, 2018)The Australian Corneal Graft Registry (ACGR) opened in May 1985 and has now been operating for 33 years. Over the years, we have collected information on more than 35,000 corneal grafts. At registration, we seek information ... -
Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets
(Investigative Ophthalmology and Visual Science, 2018-02)Purpose: Sex hormones may be associated with primary open-angle glaucoma (POAG), although the mechanisms are unclear. We previously observed that gene variants involved with estrogen metabolism were collectively associated ...
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