Ophthalmology, Eye and Vision Research Collected Works
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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 ... -
PAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asia
(Molecular Vision, 2018-03-28)Purpose Aniridia is a congenital disorder caused by variants in the PAX6 gene. In this study, we assessed the involvement of PAX6 in patients with aniridia from Australasia and Southeast Asia. Methods Twenty-nine ... -
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 ... -
Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility
(Springer Nature, 2017-11-24)Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor for primary open angle glaucoma and currently the only target ... -
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
(Nature Publishing Group, 2018-02-18)Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further ... -
DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma
(Taylor & Francis Group, 2017-12-21)Purpose: Recent genome-wide association studies reported strong association of genetic variation at the CDKN2B/CDKN2B-AS1 locus on 9p21 with normal-tension glaucoma (NTG) in multiple populations. The mechanism by which ... -
Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent
(Investigative Ophthalmology and Visual Science, 2017-12)Purpose: The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the ...
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