Now showing items 1-5 of 5

    • 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 ...
    • Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma 

      Awadalla, Mona S; Fingert, John H; Roos, Benjamin R; Chen, Simon; Holmes, Richard; Graham, Stuart L; Chehade, Mark; Galanopoulos, Anna; Ridge, Bronwyn; Souzeau, Emmanuelle; Zhou, Tiger; Siggs, Owen M; Hewitt, Alex W; Mackey, David A; Burdon, Kathryn Penelope; Craig, Jamie E (Elsevier, 2015-01)
      PURPOSE To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases. DESIGN A ...
    • 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 ...
    • 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 ...
    • 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 ...