Now showing items 1-7 of 7

    • 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 ...
    • High throughput genetic screening of 51 paediatric cataract genes identifies causative mutations in inherited paediatric cataract in South Eastern Australia 

      Javadiyan, Shahrbanou; Craig, Jamie E; Souzeau, Emmanuelle; Sharma, Shiwani; Lower, Karen Marie; Mackey, David A; Staffieri, Sandra E; Elder, James E; Taranath, Deepa A; Straga, Tania; Black, Joanna; Pater, John Brian; Casey, Theresa; Hewitt, Alex W; Burdon, Kathryn Penelope (Genetics Society of America., 2017-08-24)
      Paediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of paediatric cataract in Australian families by screening known disease associated genes using massively ...
    • 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.
    • 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, ...
    • Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract 

      Siggs, Owen M; Javadiyan, Shahrbanou; Sharma, Shiwani; Souzeau, Emmanuelle; Lower, Karen Marie; Taranath, Deepa A; Black, J A; Pater, John Brian; Willoughby, John G; Burdon, Kathryn Penelope; Craig, Jamie E (Nature Publishing Group, 2017-03-08)
      Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with ...
    • Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma 

      Siggs, Owen M; Souzeau, Emmanuelle; Pasutto, Francesca; Dubowsky, Andrew; Smith, James E H; Taranath, Deepa A; Pater, John Brian; Rait, Julian L; Narita, Andrew; Mauri, Lucia; Del Longo, Alessandra; Reis, Andre; Chappell, Angela J; Kearns, Lisa A; Staffieri, Sandra E; Elder, James E; Ruddle, Jonathan B; Hewitt, Alex W; Burdon, Kathryn Penelope; Mackey, David A; Craig, Jamie E (American Medical Association, 2019-01-17)
      Importance Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly ...
    • Repeatability of corneal first-surface wavefront aberrations measured with Pentacam corneal topography [Post print] 

      Shankar, Hema; Taranath, Deepa A; Santhirathelagan, Chandramalar T; Pesudovs, Konrad (Elsevier, 2008-05)
      PURPOSE: To assess the repeatability of corneal wavefront aberrations derived from Pentacam (Oculus) corneal topography. SETTING: Flinders Eye Centre, Flinders Medical Centre, Bedford Park, South Australia, Australia. ...