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  • 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
  • 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 ...
  • The National Eye Survey of Trinidad and Tobago (NESTT): Rationale, Objectives and Methodology 

    Braithwaite, Tasanee; Verlander, Neville Q; Bartholomew, Debra; Bridgemohan, Petra; McNamara, Kevin Peter; Roach, Allana; Sharma, Subash; Singh, Deo; Pesudovs, Konrad; Teelucksingh, Surujpal; Carrington, Christine; Ramsewak, Samuel; Bourne, Rupert R A; NESTT Study Group (Taylor & Francis Group, 2017-01-20)
    Purpose: This paper describes the rationale, study design and procedures of the National Eye Survey of Trinidad and Tobago (NESTT). The main objective of this survey is to obtain prevalence estimates of vision impairment ...
  • Number of People Blind or Visually Impaired by Cataract Worldwide and in World Regions, 1990 to 2010 

    Khairallah, Moncef; Kahloun, Rim; Bourne, Rupert R A; Limburg, Hans; Flaxman, Seth R; Jonas, Jost B; Keeffe, Jill E; Leasher, Janet; Naidoo, Kovin; Pesudovs, Konrad; Price, Holly; White, Richard A; Wong, Tien Yin; Resnikoff, Serge; Taylor, Hugh R; Vision Loss Expert Group (ARVO Journals, 2015-10)
    Purpose: To estimate prevalence and number of people visually impaired or blind due to cataract. Methods: Based on the Global Burden of Diseases Study 2010 and ongoing literature research, we examined how many people ...
  • TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases 

    Kuot, Abraham; Hewitt, Alex W; Snibson, Grant R; Souzeau, Emmanuelle; Mills, Richard Arthur; Craig, Jamie E; Burdon, Kathryn Penelope; Sharma, Shiwani (Public Library of Science, 2017-08-23)
    Fuchs’ endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 ...
  • High throughput genetic screening of 51 paediatric cataract genes identifies causative mutations in inherited paediatric cataract in South Eastern Australia 

    Javadiyan, Shahrbanou; Craig, Jamie E; Souzeau, Emmanuelle; Sharma, Shiwani; Lower, Karen Marie; Mackey, David A; Staffieri, Sandra E; Elder, James E; Taranath, Deepa A; Straga, Tania; Black, Joanna; Pater, John Brian; Casey, Theresa; Hewitt, Alex W; Burdon, Kathryn Penelope (Genetics Society of America., 2017-08-24)
    Paediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of paediatric cataract in Australian families by screening known disease associated genes using massively ...
  • Vasculogenic mimicry in vitro in tumour cells derived from metastatic malignant pleural effusions [Letter to the editor] 

    Sasanelli, Francesca; Hocking, Ashleigh; Pulford, Emily; Irani, Yazad; Klebe, Sonja (Elsevier, 2017-07-06)
  • Oral Mucosal Epithelial Cells Grown on Porous Silicon Membrane for Transfer to the Rat Eye 

    Irani, Yazad; McInnes, Steven James; Jasieniak, Marek; Voelcker, Nicolas Hans; Williams, Keryn Anne (Springer Nature, 2017-08-30)
    Dysfunction of limbal stem cells or their niche can result in painful, potentially sight-threatening ocular surface disease. We examined the utility of surface-modified porous-silicon (pSi) membranes as a scaffold for the ...
  • An Anti–VEGF-B Antibody Fragment Induces Regression of Pre-Existing Blood Vessels in the Rat Cornea 

    Irani, Yazad; Scotney, Pierre; Klebe, Sonja; Mortimer, Lauren A; Nash, Andrew; Williams, Keryn Anne (ARVO Journals, 2017-07)
    Purpose: We tested the ability of an antibody fragment with specificity for vascular endothelial growth factor-B (VEGF-B) to regress nascent and established corneal blood vessels in the rat. Methods: A single chain variable ...

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