Now showing items 1-3 of 3

    • 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, ...
    • 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, 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 ...