Now showing items 95-114 of 174

    • Lack of cone mediated retinal function increases susceptibility to form-deprivation myopia in mice 

      Chakraborty, Ranjay; Yang, Victoria; Park, Han Na; Landis, Erica G; Dhakal, Susov; Motz, Cara T; Bergen, Michael A; Iuvone, P Michael; Pardue, Machelle T (Elsevier, 2018-12-31)
      Retinal photoreceptors are important in visual signaling for normal eye growth in animals. We used Gnat2cplf3/cplf3 (Gnat2−/−) mice, a genetic mouse model of cone dysfunction to investigate the influence of cone signaling ...
    • A large genome-wide association study of age-related macular degeneration highlights contribution of rare and common variants 

      Fritsche, Lars G; Igl, Wilmar; Cooke-Bailey, Jessica N; Grassmann, Felix; Sengupta, Sebanti; Bragg-Gresham, Jennifer L; Burdon, Kathryn Penelope; Hebbring, Scott J; Wen, Cindy; Gorski, Mathias; Kim, Ivana K; Cho, David; Zack, Donald; Souied, Eric; Scholl, Hendrik P N; Bala, Elisa; Lee, Kristine E; Hunter, David J; Sardell, Rebecca J; Mitchell, Paul; Merriam, Joanna E; Cipriani, Valentina; Hoffman, Joshua D; Schick, Tina; Lechanteur, Yara T E; Guymer, Robyn H; Johnson, Matthew P; Jiang, Yingda; Stanton, Chloe M; Buitendijk, Gabrielle H S; Zhan, Xiaowei; Kwong, Alan M; Boleda, Alexis; Brooks, Matthew; Gieser,Linn; Ratnapriya, Rinki; Branham, Kari E; Foerster, Johanna R; Heckenlively, John R; Othman, Mohammad I; Vote, Brendan J; Liang, Helena Hai; Souzeau, Emmanuelle; McAllister, Ian L; Isaacs, Timothy; Hall, Janette; Lake, Stewart; Mackey, David A; Constable, Ian J; Craig, Jamie E; Kitchner, Terrie E; Yang, Zhenglin; Su, Zhiguang; Luo, Hongrong; Chen, Daniel; Ouyang, Hong; Flegg, Ken; Lin, Danni; Mao, Guanping; Ferreyra, Henry; Stark, Klaus; von Strachwitz, Claudia N; Wolf, Armin; Brandl, Caroline; Rudolph, Guenther; Olden, Matthias; Morrison, Margaux A; Morgan, Denise J; Schu, Matthew; Ahn, Matthew; Silvestri, Giuliana; Tsironi, Evangelia E; Park, Kyu Hyung; Farrer, Lindsay A; Orlin, Anton; Brucker, Alexander; Li, Mingyao; Curcio, Christine; Mohand-Saïd, Saddek; Sahel, Jose-Alain; Audo, Isabelle; Benchaboune, Mustapha; Cree, Angela J; Rennie, Christina A; Goverdhan, Srinivas V; Grunin, Michelle; Hagbi-Levi, Shira; Campochiaro, Peter; Katsanis, Nicholas; Holz, Frank G; Blond, Frederic; Blanche, Helene; Deleuze, Jean-Francois; Igo Jr, Robert P; Truitt, Barbara; Peachey, Neal S; Meuer, Stacy M; Myers, Chelsea E; Moore, Emily M; Klein, Ronald; Hauser, Michael A; Postel, Eric A; Courtenay, Monique D; Schwartz, Stephen G; Kovach, Jaclyn L; Scott, William K; Liew, Gerald; Tan, Ava G; Gopinath, Bamini; Merriam, John C; Smith, R Theodore; Khan, Jane C; Shahid, Humma; Moore, Anthony T; McGrath, J Allie; Laux, Rene; Brantley Jr., Milam A; Agarwal, Anita; Ersoy, Lebriz; Caramoy, Albert; Langmann, Thomas; Saksens, Nicole T M; de Jong, Eiko K; Hoyng, Carel B; Cain, Melinda S; Richardson, Andrea J; Martin,Tammy M; Blangero, John; Weeks, Daniel E; Dhillon, Bal; van Duijn, Cornelia M; Doheny, Kimberly F; Romm, Jane; Klaver, Caroline C W; Hayward, Caroline; Gorin, Michael B; Klein, Michael L; Baird, Paul N; den Hollander, Anneke I; Fauser, Sascha; Yates, John R W; Allikmets, Rando; Wang, Jie Jin; Schaumberg, Debra A; Klein, Barbara E K; Hagstrom, Stephanie A; Chowers, Itay; Lotery, Andrew J; Léveillard, Thierry; Zhang, Kang; Brilliant, Murray H; Hewitt, Alex W; Swaroop, Anand; Chew, Emily Y; Pericak-Vance, Margaret A; DeAngelis, Margaret; Stambolian, Dwight; Haines, Jonathan L; Iyengar, Sudha K; Weber, Bernhard H F; Abecasis, Goncalo R (Nature Publishing Group, 2015-12-21)
      Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, ...
    • Late onset post-keratoplasty astigmatism in patients with keratoconus 

      Lim, L; Pesudovs, Konrad; Goggin, M; Coster, Douglas John (BMJ Publishing Group - http://bjo.bmjjournals.com/, 2004-03)
      AIM: 10 eyes of 10 patients are reported where progression of keratoconus in the host cornea occurred more than 10 years after penetrating keratoplasty with resultant increase in astigmatism. The technique and results of ...
    • 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
    • Letter: Pervasive Blindness and ocular morbidity in the Chepang people of Nepal 

      Kandel, Amrit; Kandel, Himal; Shrestha, Priyanka (Nepal Ophthalmic Society, 2016)
    • Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation 

      Siggs, Owen M; Souzeau, Emmanuelle; Craig, Jamie E (Taylor & Francis Group, 2019-01-02)
      Purpose: Stability of the crystalline lens requires formation of microfibril bundles and their higher-order structures of ciliary zonules. Trauma, malformation, or degeneration of the ciliary zonules can lead to dislocation ...
    • 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 ...
    • Macular hypoplasia in congenital disorder of glycosylation type 1a 

      Wang, Bob Z; Siriwardana, Pradeep; Taranath, Deepa A (S. Karger, Basel, 2012)
      Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type 1a.
    • Magnitude, temporal trends, and projections of the global prevalence of blindness and distance and near vision impairment: a systematic review and meta-analysis 

      Bourne, Rupert R A; Flaxman, Seth R; Braithwaite, Tasanee; Cicinelli, Maria V; Das, Aditi; Jonas, Jost B; Keeffe, Jill E; Kempen, John H; Leasher, Janet; Limburg, Hans; Naidoo, Kovin; Pesudovs, Konrad; Resnikoff, Serge; Silvester, Alex; Stevens, Gretchen A; Tahhan, Nina; Wong, Tien Yin; Taylor, H R; Vision Loss Expert Group (Elsevier, 2017-08-02)
      Background Global and regional prevalence estimates for blindness and vision impairment are important for the development of public health policies. We aimed to provide global estimates, trends, and projections of global ...
    • Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy 

      Souzeau, Emmanuelle; Thompson, Jennifer A; McLaren, Terri L; De Roach, John N; Barnett, Christopher P; Lamey, Tina M; Craig, Jamie E (Molecular Vision, 2018-07-21)
      Purpose Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in ...
    • Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy 

      Van Bergen, Nicole J; Crowston, Jonathan G; Craig, Jamie E; Burdon, Kathryn Penelope; Kearns, Lisa S; Sharma, Shiwani; Hewitt, Alex W; Trounce, Ian A (Public Library of Science, 2015)
      Primary Open Angle Glaucoma (POAG) is a common neurodegenerative disease characterized by the selective and gradual loss of retinal ganglion cells (RGCs). Aging and increased intraocular pressure (IOP) are glaucoma risk ...
    • Measuring the health-related Sustainable Development Goals in 188 countries: a baseline analysis from the Global Burden of Disease Study 2015 

      Lim, Stephen S; Allen, Kate; Bhutta, Zulfiqar A; Dandona, Lalit; Forouzanfar, Mohammad H; Fullman, Nancy; Gething, Peter W; Goldberg, Ellen M; Hay, Simon I; Holmberg, Mollie; Kinfu, Yohannes; Kutz, Michael J; Larson, Heidi J; Liang, Xiaofeng; Lopez, Alan D; Lozano, Rafael; McNellan, Claire R; Mokdad, Ali H; Mooney, Meghan D; Naghavi, Mohsen; Olsen, Helen E; Pigott, David M; Salomon, Joshua A; Vos, Theo; Wang, Haidong; Pesudovs, Konrad (Elsevier, 2016-10-08)
      Background In September, 2015, the UN General Assembly established the Sustainable Development Goals (SDGs). The SDGs specify 17 universal goals, 169 targets, and 230 indicators leading up to 2030. We provide an analysis ...
    • Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error 

      Fan, Qiao; Verhoeven, Virginie J M; Wojciechowski, Robert; Barathi, Veluchamy A; Hysi, Pirro; Guggenheim, Jeremy A; Hohn, Rene; Vitart, Veronique; Khawaja, Anthony; Yamashiro, Kenji; Hosseini, S Mohsen; Lehtimaki, Terho; Lu, Yi; Haller, Toomas; Xie, Jing; Delcourt, Cecile; Pirastu, Mario; Wedenoja, Juho; Gharahkhani, Puya; Venturini, Cristina; Miyake, Masahiro; Hewitt, Alex W; Guo, Xiaobo; Mazur, Johanna; Huffman, Jenifer E; Williams, Katie M; Polasek, Ozren; Campbell, Harry; Rudan, Igor; Vatavuk, Zoran; Wilson, James F; Joshi, Peter K; McMahon, George; St Pourcain, Beate; Evans, David M; Simpson, Claire L; Schwantes-An, Tae-Hwi; Igo, Robert P; Mirshahi, Alireza; Cougnard-Gregoire, Audrey; Bellenguez, Celine; Blettner, Maria; Raitakari, Olli; Kahonen, Mika; Seppala, Ilkka; Zeller, Tanja; Meitinger, Thomas; Ried, Janina S; Gieger, Christian; Portas, Laura; van Leeuwen, Elisabeth M; Amin, Najaf; Uitterlinden, Andre G; Rivadeneira, Fernando; Hofman, Albert; Vingerling, Johannes R; Wang, Ya Xing; Wang, Xu; Boh, Eileen Tai-Hui; Ikram, M Kamran; Sabanayagam, Charumathi; Gupta, Preeti; Tan, Vincent; Zhou, Lei; Ho, Candice E H; Lim, Wan'e; Craig, Jamie E; Burdon, Kathryn Penelope; Fogarty, Rhys Daniel; Consortium, Refractive Error and Myopia (CREAM); et. al. (Nature Publishing Group, 2016)
      Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium ...
    • 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 ...
    • Meta-analysis of optical lowcoherence reflectometry versus partial coherence interferometry biometry 

      Huang, Jinhai; McAlinden, Colm; Huang, Yingying; Wen, Daizong; Savini, Giacomo; Tu, Ruixue; Wang, Qinmei (Nature Publishing Group, 2017-02-24)
      A meta-analysis to compare ocular biometry measured by optical low-coherence reflectometry (Lenstar LS900; Haag Streit) and partial coherence interferometry (the IOLMaster optical biometer; Carl Zeiss Meditec). A systematic ...
    • 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 ...
    • Multiple sclerosis presenting with homonymous hemianopia 

      Law, Siew W; Lee, Andrew W; Chen, Celia Shin Wen (Royal Australian College of General Practitioners, 2009)
      Ophthalmic manifestations are a prominent feature of multiple sclerosis (MS). Optic neuritis accounts for 18% of initial MS symptoms and 40–70% of all patients with MS have at least one episode of optic neuritis during ...
    • 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 ...
    • 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, ...