Recent Submissions

  • Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy 

    Souzeau, Emmanuelle; Thompson, Jennifer A; McLaren, Terri L; De Roach, John N; Barnett, Christopher P; Lamey, Tina M; Craig, Jamie E (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 

    Javadiyan, Shahrbanou; Lucas, Sionne E; Wangmo, Dechen; Ngy, Meng; Edussuriya, Kapila; Craig, Jamie E; Rudkin, Adam K; Casson, Robert J; Selva, Dinesh; Sharma, Shiwani; Lower, Karen Marie; Meucke, James; Burdon, Kathryn Penelope (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 

    Ghaemi, Soraya Rasi; Delalat, Bahman; Harding, Frances Jane; Irani, Yazad; Williams, Keryn Anne; Voelcker, Nicolas Hans (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 

    Staffieri, Sandra E; Kearns, Lisa S; Sanfilippo, Paul Gerard; Craig, Jamie E; Mackey, David A; Hewitt, Alex W (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 

    Smith, Justine R; David, Larry L; Appukuttan, Binoy; Wilmarth, Phillip A (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 

    MacGregor, Stuart; Ong, Jue Sheng; An, Jiyuan; Han, Xikun; Zhou, Tiger; Siggs, Owen M; Law, Matthew H; Souzeau, Emmanuelle; Sharma, Shiwani; Lynn, David J; Beesley, Jonathan; Sheldrick, Bronwyn; Mills, Richard Arthur; Landers, John; Ruddle, Jonathan B; Graham, Stuart L; Healey, Paul R; White, Andrew J; Casson, Robert J; Best, Stephen; Grigg, John RB; Goldberg, Ivan; Powell, Joseph E; Whiteman, David C; Smith, Graham; Martin, Nicholas G; Montgomery, Grant W; Burdon, Kathryn Penelope; Mackey, David A; Gharahkhani, Puya; Craig, Jamie E; Hewitt, Alex W (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 

    Maccora, Katia A; Souzeau, Emmanuelle; Ruddle, Jonathan B; Craig, Jamie E (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 

    Allan, Richard B; Vun, Simon V; Spark, James Ian (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 

    Williams, Keryn Anne; Keane, Miriam Claire; Coffey, Nora Elizabeth; Jones, Victoria Jane; Mills, Richard Arthur; Coster, Douglas John (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 

    Cooke-Bailey, Jessica N; Gharahkhani, Puya; Kang, Jae Hee; Butkiewicz, Mariusz; Sullivan, David; Weinreb, Robert Neal; Aschard, Hugues; Allingham, R Rand; Ashley-Koch, Allison; Lee, Richard K; Moroi, Sayoko E; Brilliant, Murray H; Wollstein, Gadi; Schuman, Joel; Fingert, John H; Budenz, Donald L; Realini, Tony; Gaasterland, Terry; Scott, William K; Singh, Kuldev; Sit, Arthur J; Igo Jr, Robert P; Song, Yeunjoo E; Hark, Lisa; Ritch, Robert; Rhee, Douglas J; Vollrath, Douglas; Zack, Donald; Medeiros, Felipe; Vajaranant, Thasarat S; Chasman, Daniel I; Christen, William G; Pericak-Vance, Margaret A; Liu, Yutao; Kraft, Peter; Richards, Julia E; Rosner, Bernard A; Hauser, Michael A; Craig, Jamie E; Burdon, Kathryn Penelope; Hewitt, Alex W; Mackey, David A; Haines, Jonathan L; MacGregor, Stuart; Wiggs, Janey L; Pasquale, Louis R; Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium (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 

    Souzeau, Emmanuelle; Rudkin, Adam K; Dubowsky, Andrew; Casson, Robert J; Muecke, James S; Mancel, Erica; Whiting, Mark; Mills, Richard Arthur; Burdon, Kathryn Penelope; Craig, Jamie E (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 

    Staffieri, Sandra E; Kearns, Lisa S; Sanfilippo, Paul Gerard; Craig, Jamie E; Mackey, David A; Hewitt, Alex W (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 

    Chintalapudi, Sumana R; Maria, Doaa; Wang, Xiang Di; Cooke Bailey, Jessica N; Neighborhood Consortium; International Glaucoma Genetics consortium; Hysi, Pirro G; Wiggs, Janey L; Williams, Robert W; Jablonski, Monica M; Craig, Jamie E (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 

    Gharahkhani, Puya; Burdon, Kathryn Penelope; Cooke-Bailey, Jessica N; Hewitt, Alex W; Law, Matthew H; Pasquale, Louis R; Kang, Jae Hee; Haines, Jonathan L; Souzeau, Emmanuelle; Zhou, Tiger; Siggs, Owen M; Landers, John; Awadalla, Mona S; Sharma, Shiwani; Mills, Richard Arthur; Ridge, Bronwyn; Lynn, David J; Casson, Robert J; Graham, Stuart L; Goldberg, Ivan; White, Andrew J; Healey, Paul R; Grigg, John RB; Lawlor, Mitchell; Mitchell, Paul; Ruddle, Jonathan B; Coote, Michael A; Walland, Mark; Best, Stephen; Vincent, Andrea; Gale, Jesse; Radford-Smith, Graham; Whiteman, David C; Montgomery, Grant W; Martin, Nicholas G; Mackey, David A; Wiggs, Janey L; MacGregor, Stuart; Craig, Jamie E; Neighborhood Consortium (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 

    Burdon, Kathryn Penelope; Awadalla, Mona S; Mitchell, Paul; Wang, Jie Jin; White, Andrew J; Keane, Miriam Claire; Souzeau, Emmanuelle; Graham, Stuart L; Goldberg, Ivan; Healey, Paul R; Landers, John; Mills, Richard Arthur; Best, Stephen; Hewitt, Alex W; Sharma, Shiwani; Craig, Jamie E (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 

    Lucas, Sionne E; Zhou, Tiger; Blackburn, Nicholas B; Mills, Richard Arthur; Ellis, Jonathan; Leo, Paul; Souzeau, Emmanuelle; Ridge, Bronwyn; Charlesworth, Jac C; Brown, Matthew A; Lindsay, Richard; Craig, Jamie E; Burdon, Kathryn Penelope (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 ...
  • Angiopoietin-1 is required for Schlemm’s canal development in mice and humans 

    Thomson, Benjamin R; Souma, Tomokazu; Tompson, Stuart W; Onay, Tuncer; Kizhatil, Krishnakumar; Siggs, Owen M; Feng, Liang; Whisenhunt, Kristina N; Yanovitch, Tammy L; Kalaydjieva, Luba; Azmanov, Dimitar N; Finzi, Simone; Tanna, Christine A; Hewitt, Alex W; Mackey, David A; Bradfield, Yasmin S; Souzeau, Emmanuelle; Javadiyan, Shahrbanou; Wiggs, Janey L; Pasutto, Francesca; Liu, Xiaorong; John, Simon W M; Craig, Jamie E; Jin, Jing; Young, Terri L; Quaggin, Susan (American Society for Clinical Investigation, 2017-11)
    Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structures, Schlemm’s canal (SC) and the trabecular meshwork. We ...
  • Global causes of blindness and distance vision impairment 1990–2020: a systematic review and meta-analysis 

    Flaxman, Seth R; Bourne, Rupert R A; Resnikoff, Serge; Ackland, Peter; Braithwaite, Tasanee; Cicinelli, Maria V; Das, Aditi; Jonas, Jost B; Keeffe, Jill E; Kempen, John H; Leasher, Janet; Limburg, Hans; Naidoo, Kovin; Pesudovs, Konrad; Silvester, Alex; Stevens, Gretchen A; Tahhan, Nina; Wong, Tien Yin; Taylor, Hugh R; Vision Loss Expert Group of the Global Burden of Disease Study (Elsevier, 2017-10-11)
    Background Contemporary data for causes of vision impairment and blindness form an important basis of recommendations in public health policies. Refreshment of the Global Vision Database with recently published data sources ...
  • The Mobility Assessment Course for the Diagnosis of Spatial Neglect: Taking a Step Forward? 

    Grech, Megan; Stuart, Tracey; Williams, Lindy; Chen, Celia Shin Wen; Loetscher, Tobias (Frontiers Media S.A., 2017-10-31)
    Spatial neglect after stroke can be a challenging syndrome to diagnose under standard neuropsychological assessment. There is now sufficient evidence that those affected might demonstrate neglect behavior in everyday ...
  • Teaching Communication Skills: An Australian Optometry Program’s New Course 

    Brandenburg, Rob; Pesudovs, Konrad (Association of Schools and Colleges of Optometry., 2014-09)
    After a review of the literature, the authors describe the experience of developing and teaching a new communication skills course at Flinders University in South Australia. A follow-up survey indicated that optometry ...

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