Now showing items 134-153 of 174

    • Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract 

      Siggs, Owen M; Javadiyan, Shahrbanou; Sharma, Shiwani; Souzeau, Emmanuelle; Lower, Karen Marie; Taranath, Deepa A; Black, J A; Pater, John Brian; Willoughby, John G; Burdon, Kathryn Penelope; Craig, Jamie E (Nature Publishing Group, 2017-03-08)
      Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with ...
    • 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 ...
    • Penetrating keratoplasty versus deep anterior lamellar keratoplasty for treating keratoconus 

      Keane, Miriam Claire; Williams, Keryn Anne; Coster, Douglas John (John Wiley and Sons Ltd, 2012-03-14)
      This is the protocol for a review and there is no abstract. The objectives are as follows: To compare visual outcomes after penetrating keratoplasty and DALK for keratoconus and identify the factors contributing to ...
    • The PITX3 gene in posterior polar congenital cataract in Australia 

      Burdon, Kathryn Penelope; McKay, James D; Wirth, M Gabriela; Ruddle, Jonathan B; Russell-Eggit, Isabelle M; Bhatti, Samira; Dimasi, David Paul; Mackey, David A; Craig, Jamie E (2006)
    • Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma 

      Souzeau, Emmanuelle; Glading, Jodi; Keane, Miriam Claire; Ridge, Bronwyn; Zhou, Tiger; Burdon, Kathryn Penelope; Craig, Jamie E (Nature Publishing Group, 2014-01-09)
      Purpose: Predictive genetic testing of relatives of known myocilin (MYOC) gene mutation carriers is an appropriate strategy to identify individuals at risk for glaucoma. It is likely to prevent irreversible blindness ...
    • Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma 

      Souzeau, Emmanuelle; Glading, Jodi; Ridge, Bronwyn; Wechsler, David; Chehade, Mark; Dubowsky, Andrew; Burdon, Kathryn Penelope; Craig, Jamie E (John Wiley & Sons, inc., 2015-01-28)
      Myocilin glaucoma is an autosomal dominant disorder leading to irreversible blindness, but early intervention can minimize vision loss and delay disease progression. The purpose of this study was to discuss the benefits ...
    • Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance 

      Awadalla, Mona S; Fitzgerald, Jude T; Andrew, Nicholas H; Zhou, Tiger; Marshall, Henry; Qassim, Ayub; Hassall, Mark; Casson, Robert J; Graham, Stuart L; Healey, Paul R; Agar, Ashish; Galanopoulos, Anna; Phipps, Simon; Chappell, Angela J; Landers, John; Craig, Jamie E (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 ...
    • Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma 

      Siggs, Owen M; Souzeau, Emmanuelle; Pasutto, Francesca; Dubowsky, Andrew; Smith, James E H; Taranath, Deepa A; Pater, John Brian; Rait, Julian L; Narita, Andrew; Mauri, Lucia; Del Longo, Alessandra; Reis, Andre; Chappell, Angela J; Kearns, Lisa A; Staffieri, Sandra E; Elder, James E; Ruddle, Jonathan B; Hewitt, Alex W; Burdon, Kathryn Penelope; Mackey, David A; Craig, Jamie E (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 ...
    • The prevalence of glaucoma in indigenous Australians within Central Australia: the Central Australian Ocular Health Study 

      Landers, John; Henderson, Timothy R; Craig, Jamie E (BMJ Group, 2011-04-22)
      Aims To determine the prevalence of glaucoma within the indigenous Australian population living in central Australia. Methods 1884 individuals aged ≥20 years, living in one of 30 remote communities within the statistical ...
    • Prognostic Indicators and Outcome Measures for Surgical Removal of Symptomatic Nonadvanced Cataract 

      Charalampidou, S; Loughman, J; Nolan, J; Stack, J; Cassidy, L T; Pesudovs, Konrad (American Medical Association, 2011-09)
      Objectives To report changes in perceived visual functioning after surgery for symptomatic cataract with preoperative corrected distance visual acuity [CDVA] of 0.4 logMAR or better (Snellen equivalent, 20/50) and to ...
    • Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy 

      Kaidonis, Georgia; Craig, Jamie E; Gillies, Mark; Abhary, Sotoodeh; Essex, Rohan; Chang, J H; Pal, Bishwanath; Pefkianaki, Maria; Daniell, Mark; Lake, Stewart; Petrovsky, Nikolai; Burdon, Kathryn Penelope (SAGE Publications, 2016-01-28)
      AIM: To investigate, in a large cohort of 2494 individuals with diabetes mellitus, whether functional single nucleotide polymorphisms in the promoter region of tumour necrosis factor (TNF) and lymphotoxin-alpha (LTA) ...
    • A Proposed Minimum Standard Set of Outcome Measures for Cataract Surgery 

      Mahmud, Imran; Kelley, Thomas; Stowell, Caleb; Haripriya, Aravind; Boman, Anders; Kossler, Ingrid; Morlet, Nigel; Pershing, Suzann; Pesudovs, Konrad; Goh, Pik Pin; Sparrow, John M; Lundstrom, Mats (American Medical Association, 2015-08-20)
      Importance Aligning outcome measures for cataract surgery, one of the most frequently performed procedures globally, may facilitate international comparisons that can drive improvements in the outcomes most meaningful to ...
    • Psychometric Properties of the NEI-RQL-42 Questionnaire in Keratoconus 

      McAlinden, Colm; Khadka, Jyoti; Santos Paranhos, Juliane de Freitas; Schor, Paulo; Pesudovs, Konrad (Association for Research in Vision and Ophthalmology, Inc., 2012-10)
      Purpose.: To assess the psychometric properties of the National Eye Institute Refractive Error Quality of Life (NEI-RQL-42) questionnaire in keratoconus and compare these findings to patients with refractive error correction ...
    • Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma. 

      Zhou, Tiger; Souzeau, Emmanuelle; Sharma, Shiwani; Siggs, Owen M; Goldberg, Ivan; Healey, Paul R; Graham, Stuart L; Hewitt, Alex W; Mackey, David A; Casson, Robert J; Landers, John; Mills, Richard Arthur; Ellis, Jonathan; Leo, Paul; Brown, Matthew A; MacGregor, Stuart; Burdon, Kathryn Penelope; Craig, Jamie E (Wiley, 2016-10-03)
    • Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases 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; Lindsay, Richard; Craig, Jamie E; Burdon, Kathryn Penelope (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, ...
    • 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 ...
    • Recurrent atypical fibroxanthoma of the limbus 

      Ullrich, Katja; Wells, Jane; Brennan, Catriona; Craig, Jamie E (BMJ Publishing Group, 2013-03)
      We report an unusual presentation of recurrent atypical fibroxanthoma of the limbus. Clinical and histological appearance, as well as management are discussed and the current literature is reviewed.
    • Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract 

      Javadiyan, Shahrbanou; Craig, Jamie E; Souzeau, Emmanuelle; Sharma, Shiwani; Lower, Karen Marie; Pater, John Brian; Casey, Theresa; Hodson, T; Burdon, Kathryn Penelope (BioMed Central, 2016)
      Background: Cataract is a major cause of childhood blindness worldwide. The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric ...
    • Reengineering the Glaucoma Quality of Life-15 Questionnaire with Rasch Analysis 

      Khadka, Jyoti; Pesudovs, Konrad; McAlinden, Colm; Vogel, M; Kernt, M; Hirneiss, C (Association for Research in Vision and Ophthalmology, Inc., 2011-08)
      Purpose.: To investigate, using Rasch analysis, whether the 15-item Glaucoma Quality of Life-15 (GQL-15) forms a valid scale and to optimize its psychometric properties. Methods.: One hundred eighteen glaucoma patients ...
    • Rejection and acceptance of corneal allografts 

      Klebe, Sonja; Coster, Douglas John; Williams, Keryn Anne (Lippincott, Williams & Wilkins, 2009)
      PURPOSE OF REVIEW: Corneal transplantation is successful in the short-term, but the long-term prognosis has not improved over the past 20 years. Here, we review recent findings that may contribute to improved corneal ...