Now showing items 1-20 of 20

    • 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 ...
    • Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterisation of the protein in the eye 

      Sharma, Shiwani; Burdon, Kathryn Penelope; Chidlow, Glyn; Klebe, Sonja; Crawford, April; Dimasi, David Paul; Dave, Alpana; Martin, Sarah; Javadiyan, Shahrbanou; Wood, John P M; Casson, Robert J; Danoy, Patrick; Griggs, Kim Marie; Hewitt, Alex W; Landers, John; Mitchell, Paul; Mackey, David A; Craig, Jamie E (Association for Research in Vision and Ophthalmology, 2012-06-06)
      Purpose. Glaucoma is the leading cause of irreversible blindness worldwide. Primary open angle glaucoma (POAG) is the most common subtype. We recently reported association of genetic variants at chromosomal loci, 1q24 and ...
    • Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment 

      Souzeau, Emmanuelle; Goldberg, Ivan; Healey, Paul R; Mills, Richard Arthur; Landers, John; Graham, Stuart L; Grigg, John RB; Usher, Bronwyn; Straga, Tania; Crawford, April; Casson, Robert J; Morgan, William H; Ruddle, Jonathan B; Coote, Michael A; White, Andrew J; Stewart, James; Hewitt, Alex W; Mackey, David A; Burdon, Kathryn Penelope; Craig, Jamie E (Wiley-Blackwell, 2013-08-13)
      Glaucoma is a sight-threatening disease affecting 3% of the population over the age of 50. Glaucoma is treatable, and severe vision loss can usually be prevented if diagnosis is made at an early stage. Genetic factors play ...
    • Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma 

      Gharahkhani, Puya; Burdon, Kathryn Penelope; Fogarty, Rhys Daniel; Sharma, Shiwani; Hewitt, Alex W; Martin, Sarah; Law, Matthew H; Cremin, Katie; Cooke-Bailey, Jessica N; Loomis, Stephanie J; Pasquale, Louis R; Haines, Jonathan L; Hauser, Michael A; Viswanathan, Ananth C; McGuffin, Peter W; Topouzis, Fotis; Foster, Paul J; Graham, Stuart L; Casson, Robert J; Chehade, Mark; White, Andrew J; Zhou, Tiger; Souzeau, Emmanuelle; Landers, John; Fitzgerald, Jude T; Klebe, Sonja; Ruddle, Jonathan B; Goldberg, Ivan; Healey, Paul R; Wellcome Trust Case Control Consortium; Neighborhood Consortium; Mills, Richard Arthur; Wang, Jie Jin; Montgomery, Grant W; Martin, Nicholas G; Radford-Smith, Graham; Whiteman, David C; Brown, Matthew A; Wiggs, Janey L; Mackey, David A; Mitchell, Paul; MacGregor, Stuart; Craig, Jamie E (Nature Publishing Group, 2014-10)
      Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 ...
    • Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma 

      Zhou, Tiger; Souzeau, Emmanuelle; Siggs, Owen M; Landers, John; Mills, Richard Arthur; Goldberg, Ivan; Healey, Paul R; Graham, Stuart L; Hewitt, Alex W; Mackey, David A; Galanopoulos, Anna; Casson, Robert J; Ruddle, Jonathan B; Ellis, Jonathan; Leo, Jonathan; Brown, Matthew A; MacGregor, Stuart; Sharma, Shiwani; Burdon, Kathryn Penelope; Simmonds, Jamie E (Association for Research in Vision and Ophthalmology, Inc., 2017-03)
      Purpose: Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden ...
    • 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 ...
    • Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma 

      Ng, Soo Khai; Burdon, Kathryn Penelope; Fitzgerald, Jude T; Zhou, Tiger; Fogarty, Rhys Daniel; Souzeau, Emmanuelle; Landers, John; Mills, Richard Arthur; Casson, Robert J; Ridge, Bronwyn; Graham, Stuart L; Hewitt, Alex W; Mackey, David A; Healey, Paul R; Wang, Jie Jin; Mitchell, Paul; MacGregor, Stuart; Craig, Jamie E (Association for Research in Vision and Ophthalmology (ARVO), 2016)
    • Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 

      Burdon, Kathryn Penelope; MacGregor, Stuart; Hewitt, Alex W; Sharma, Shiwani; Chidlow, Glyn; Mills, Richard Arthur; Danoy, Patrick; Casson, Robert J; Viswanathan, Ananth C; Liu, Jimmy Z; Landers, John; Henders, Anjali K; Wood, John; Souzeau, Emmanuelle; Crawford, April; Leo, Paul; Wang, Jie Jin; Nyholt, Dale R; Martin, Nicholas G; Montgomery, Grant W; Mitchell, Paul; Brown, Matthew A; Mackey, David A; Craig, Jamie E (Nature Publishing Group, 2011)
      A genome-wide association study (GWAS) for open angle glaucoma (OAG) blindness was conducted using a discovery cohort of 590 cases with severe visual field loss and 3956 controls. Genome-wide significant associations were ...
    • 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 ...
    • Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants 

      Souzeau, Emmanuelle; Siggs, Owen M; Zhou, Tiger; Galanopoulos, Anna; Hodson, Trevor; Taranath, Deepa A; Mills, Richard Arthur; Landers, John; Pater, John Brian; Smith, James E; Elder, James E; Rait, Julian L; Giles, Paul; Phakey, Vivek; Staffieri, Sandra E; Kearns, Lisa S; Dubowsky, Andrew; Mackey, David A; Hewitt, Alex W; Ruddle, Jonathan B; Burdon, Kathryn Penelope; Craig, Jamie E (Nature Publishing Group, 2017-05-17)
      Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals ...
    • Higher prevalence of Myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry 

      Souzeau, Emmanuelle; Burdon, Kathryn Penelope; Dubowsky, Andrew; Grist, S; Usher, Bronwyn; Fitzgerald, Jude T; Crawford, April; Hewitt, Alex W; Goldberg, Ivan; Mills, Richard Arthur; Ruddle, Jonathan B; Landers, John; Mackey, David A; Craig, Jamie E (Elsevier, 2013-02-28)
      The prevalence of Myocilin mutations in glaucoma cases with severe visual field loss is significantly greater than in nonadvanced glaucoma patients. Myocilin screening in phenotypically selected cases can have a much higher ...
    • Macular GCIPL loss precedes peripapillary RNFL loss in glaucoma with lower intraocular pressure 

      Marshall, Henry; Andrew, Nicholas H; Hassall, Mark; Qassim, Ayub; Souzeau, Emmanuelle; Ridge, Bronwyn; Nguyen, Thi; Fitzgerald, Jude T; Awadalla, Mona S; Burdon, Kathryn Penelope; Healey, Paul R; Agar, Ashish; Galanopoulos, Anna; Hewitt, Alex W; Graham, Stuart L; Landers, John; Casson, Robert J; Craig, Jamie E (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 ...
    • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process 

      Springelkamp, Henriet; Hohn, Rene; Mishra, Aniket; Hysi, Pirro; Khor, Chiea Chuen; Loomis, Stephanie J; Cooke-Bailey, Jessica N; Gibson, Jane; Thorleifsson, Gudmar; Janssen, Sarah F; Luo, Xiaoyan; Ramdas, Wishal D; Vithana, Eranga; Nongpiur, Monisha E; Montgomery, Grant W; Xu, Liang; Mountain, Jenny E; Gharahkhani, Puya; Lu, Yi; Amin, Najaf; Karssen, Lennart C; Sim, Kar Seng; van Leeuwen, Elisabeth M; Iglesias, Adriana; Verhoeven, Virginie J M; Hauser, Michael A; Loon, Seng Chee; Despriet, Dominiek D G; Nag, Abhishek; Venturini, Cristina; Sanfilippo, Paul Gerard; Schillert, Arne; Kang, Jae H; Landers, John; Jonasson, Fridbert; Cree, Angela J; van Koolwijk, Leonieke M E; Rivadeneira, Fernando; Souzeau, Emmanuelle; Jonsson, Vesteinn; Menon, Geeta; Weinreb, Robert Neal; de Jong, Paulus T V M; Oostra, Ben A; Uitterlinden, Andre G; Hofman, Albert; Ennis, Sarah; Thorsteinsdottir, Unnur; Burdon, Kathryn Penelope; Spector, Tim; Mirshahi, Alireza; Saw, Seangmei; Vingerling, Johannes R; Teo, Yik Ying; Haines, Jonathan L; Wolfs, Roger C W; Lemij, Hans G; Tai, E-Shyong; Jansonius, Nomdo M; Jonas, Jost B; Cheng, Ching-Yu; Aung, Tin; Viswanathan, Ananth C; Klaver, Caroline C W; Craig, Jamie E; MacGregor, Stuart; Mackey, David A; Lotery, Andrew J; Stefansson, Kari; Bergen, Arthur A B B; Young, Terri L; Wiggs, Janey L; Pfeiffer, Norbert; Wong, Tien Yin; Pasquale, Louis R; Hewitt, Alex W; Hammond, Christopher J (Nature Publishing Group, 2014-09)
      Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of ...
    • Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12 

      Awadalla, Mona S; Burdon, Kathryn Penelope; Souzeau, Emmanuelle; Landers, John; Hewitt, Alex W; Sharma, Shiwani; Craig, Jamie E (American Medical Association, 2014)
      IMPORTANCE: Nanophthalmos is a congenital disorder characterized by small eyes, with the main complications being severe hyperopia and angle-closure glaucoma. OBJECTIVE: To perform a clinical and genetic investigation ...
    • Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss 

      Souzeau, Emmanuelle; Hayes, Melanie; Zhou, Tiger; Siggs, Owen M; Ridge, Bronwyn; Awadalla, Mona S; Smith, James E H; Hewitt, Alex W; Healey, Paul R; Goldberg, Ivan; Morgan, William H; Landers, John; Dubowsky, Andrew; Burdon, Kathryn Penelope; Craig, Jamie E (American Medical Association, 2015-07)
    • 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 ...
    • 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 ...
    • 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)
    • The reliability of single-field fundus photography in screening for diabetic retinopathy: the Central Australian Ocular Health Study 

      Ku, Janice J-Y; Landers, John; Henderson, Timothy R; Craig, Jamie E (MJA Group Australia, 2012-10-26)
      Objective: To assess the accuracy of grading diabetic retinopathy (DR) using single-field digital fundus photography compared with clinical grading from a dilated slit-lamp fundus examination in Indigenous Australians ...
    • Review of the prevalence of diabetic retinopathy in Indigenous Australians 

      Kaidonis, Georgia; Mills, Richard Arthur; Landers, John; Lake, Stewart; Burdon, Kathryn Penelope; Craig, Jamie E (2014)
      The purpose of this review is to compare the prevalence of diabetic retinopathy (DR) between Indigenous and non-Indigenous Australians with Diabetes Mellitus (DM). Australian DR prevalence data from 6 Indigenous studies ...