Now showing items 115-134 of 177

    • Mutational analysis of MIR184 in sporadic keratoconus and myopia 

      Lechner, Judith; Bae, Ha Ae; Guduric-Fuchs, Jasenka; Rice, Aine; Govindarajan, Gowthaman; Siddiqui, Salina; Farraj, Layal Abi; Yip, Shea Ping; Yap, Maurice; Das, Manoranjan; Souzeau, Emmanuelle; Coster, Douglas John; Mills, Richard Arthur; Lindsay, Richard; Phillips, Tony; Mitchell, Paul; Ali, Manir; Inglehearn, Chris F; Sundaresan, Periasamy; Simpson, David A; Craig, Jamie E; Burdon, Kathryn Penelope; Willoughby, Colin E (Association for Research in Vision and Ophthalmology (ARVO), 2013-08-05)
      A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results in familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, ...
    • Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. 

      Dave, Alpana; Laurie, Kate; Staffieri, Sandra E; Taranath, Deepa A; Mackey, David A; Mitchell, Paul; Wang, Jie Jin; Craig, Jamie E; Burdon, Kathryn Penelope; Sharma, Shiwani (Public Library of Science, 2013)
      Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital cataract. Recently, mutations in the receptor tyrosine kinase gene, ...
    • Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals. 

      Souzeau, Emmanuelle; Tram, Kien Hou; Witney, Martin; Ruddle, Jonathan B; Graham, Stuart L; Healey, Paul R; Goldberg, Ivan; Mackey, David A; Hewitt, Alex W; Burdon, Kathryn Penelope; Craig, Jamie E (American Academy of Ophthalmology, 2016-12-16)
    • 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 ...
    • Neuroretinitis following bull ant sting 

      Ullrich, Katja; Saha, Niladri; Lake, Stewart (BMJ Group, 2012)
      Cat scratch disease causes the majority of cases of neuroretinitis. Neuroretinitis is characterised by clinical features of papillitis, macular oedema and macular star. We report a case study of infection with Bartonella ...
    • New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. 

      Springelkamp, Henriët; Iglesias, Adriana; Mishra, Aniket; Hohn, Rene; Wojciechowski, Robert; Khwaja, Anthony P; Nag, Abhishek; Wang, Ya Xing; Wang, Jie Jin; Cuellar-Partida, Gabriel; Gibson, Jane; Cooke-Bailey, Jessica N; Vithana, Eranga; Gharahkhani, Puya; Boutin, Thibaud; Ramdas, Wishal D; Zeller, Tanja; Luben, Robert N; Yonova-Doing, Ekaterina; Yazar, Seyhan; Cree, Angela J; Haines, Jonathan L; Koh, Jia Yu; Souzeau, Emmanuelle; Wilson, James F; Amin, Najaf; Muller, Christian; Venturini, Cristina; Kearns, Lisa S; Kang, Jae Hee; Tham, Yih Chung; Zhou, Tiger; van Leeuwen, Elisabeth M; NIckels, Stefan; Sanfilippo, Paul Gerard; Liao, Jiemin; van der Linde, Herma; Zhao, Wanting; van Koolwijk, Leonieke M E; Zheng, Li; Rivadeneira, Fernando; Baskaran, Mani; van der Lee, Sven J; Perera, Shamira; de Jong, Paulus T V M; Oostra, Ben A; Uitterlinden, Andre G; Fan, Qiao; Hofman, Albert; Tai, E-Shyong; Vingerling, Johannes R; Sim, Xueling; Wolfs, Roger C W; Teo, Yik Ying; Lemij, Hans G; Khor, Chiea Chuen; Willemsen, Rob; Lackner, Karl J; Aung, Tin; Jansonius, Nomdo M; Montgomery, Grant W; Wild, Philipp S; Young, Terri L; Burdon, Kathryn Penelope; Hysi, Pirro G; Pasquale, Louis R; Wong, Tien Yin; Klaver, Caroline C W; Hewitt, Alex W; Jonas, Jost B; Mitchell, Paul; Lotery, Andrew J; Foster, Paul J; Vitart, Veronique; Pfeiffer, Norbert; Craig, Jamie E; Mackey, David A; Hammond, Christopher J; Wiggs, Janey L; Cheng, Ching-Yu; van Duijin, Cornelia M; MacGregor, Stuart; Viswanathan, Ananth C (Oxford University Press, 2017-01)
      Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increase risk of developing the disease. Intraocular pressure (IOP) and optic nerve head ...
    • Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoform 

      Sharma, Shiwani; Burdon, Kathryn Penelope; Craig, Jamie E; Dave, Alpana; Jamieson, Robyn; Yaron, Yuval; Billson, Frank; Maldergem, Lionel; Lorenz, Birgit; Gecz, Jozef (2008)
    • A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma 

      Souzeau, Emmanuelle; Burdon, Kathryn Penelope; Ridge, Bronwyn; Dubowsky, Andrew; Ruddle, Jonathan B; Craig, Jamie E (BioMed Central, 2016)
      BACKGROUND: Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8-36% of cases, and display an autosomal dominant inheritance ...
    • A novel locus for X-lined congenital cataract on Xq24 

      Craig, Jamie E; Friend, K; Gecz, Jozef; Rattray, K M; Troski, Mark; Mackey, David A; Burdon, Kathryn Penelope (2008)
    • Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome) 

      Javadiyan, Shahrbanou; Craig, Jamie E; Sharma, Shiwani; Lower, Karen Marie; Casey, Theresa; Haan, Eric; Souzeau, Emmanuelle; Burdon, Kathryn Penelope (BioMed Central, 2017-05-08)
    • A novel pressed porous silicon-polycaprolactone composite as a dual-purpose implant for the delivery of cells and drugs to the eye. 

      Irani, Yazad; Tian, Y; Wang, M; Klebe, Sonja; McInnes, Steven James; Voelcker, Nicolas Hans; Coffer, Jeffery L; Williams, Keryn Anne (Elsevier, 2015-10-01)
      Dysfunction of corneal epithelial stem cells can result in painful and blinding disease of the ocular surface. In such cases, treatment may involve transfer of growth factor and normal adult stem cells to the ocular surface. ...
    • A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian aboriginal family maps to 1p35.3-p36.32 

      Hattersely, Kathryn; Laurie, Kate; Leibelt, J E; Gezc, J; Durkin, Shane; Craig, Jamie E; Burdon, Kathryn Penelope (2010)
      Background A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal ...
    • Novel therapeutic approaches for corneal disease 

      Williams, Keryn Anne; Irani, Yazad; Klebe, Sonja (Discovery Medicine, 2013-05-24)
      Congenital and acquired corneal opacities, and diseases of the ocular surface, are blinding conditions that impose physical, psychological, and financial constraints upon the sufferer. In the past, corneal and corneal ...
    • 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 ...
    • Number of People Blind or Visually Impaired by Glaucoma Worldwide and in World Regions 1990 - 2010: A Meta-Analysis 

      Bourne, Rupert R A; Taylor, Hugh R; Flaxman, Seth R; Keeffe, Jill E; Leasher, Janet; Naidoo, Kovin; Pesudovs, Konrad; White, Richard A; Wong, T Y; Resnikoff, Serge; Jonas, Jost B; Vision Loss Expert Group of the Global Burden of Disease Study (Public Library of Science, 2016-10-20)
      Objective To assess the number of individuals visually impaired or blind due to glaucoma and to examine regional differences and temporal changes in this parameter for the period from 1990 to 2012. Methods As part of ...
    • 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)
    • Ocular morbidity on headache ruled out of systemic causes----A prevalence study carried out at a community based hospital in Nepal 

      Marasini, Sanjay; Khadka, Jyoti; Sthapit, Purnima Raj Karnikar; Sharma, Ranjana; Nepal, Bhagvat Prasad (Elsevier Espana, 2012-03-31)
    • Optic neuritis - more than a loss of vision 

      Chu, Edward R; Chen, Celia Shin Wen (Royal Australian College of General Practitioners, 2009)
      Optic neuritis (ON) is the presence of an acute inflammation of the optic nerve that results in painful loss of vision. It is the most commonly encountered optic neuropathy in general practice, and is often associated ...
    • Oral administration of antigen in the treatment of eye disease 

      Williams, Keryn Anne (BMJ Publishing Group -, 1997-09)
      Comment on the Oral administration of antigen in the treatment of eye disease
    • 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 ...