Paul N Baird

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. ncbi request reprint Generating mouse models of retinal disease using ENU mutagenesis
    P N Baird
    University of Melbourne, Centre for Eye Research Australia CERA, University of Melbourne, 32 Gisborne Street, East Melbourne, 3002, Victoria, Australia
    Vision Res 42:479-85. 2002
  2. ncbi request reprint Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Victoria
    Invest Ophthalmol Vis Sci 47:4194-8. 2006
  3. ncbi request reprint Heritability of refractive error and ocular biometrics: the Genes in Myopia (GEM) twin study
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne 3002, Australia
    Invest Ophthalmol Vis Sci 47:4756-61. 2006
  4. ncbi request reprint Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Victoria, Australia
    Clin Experiment Ophthalmol 32:518-22. 2004
  5. pmc Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration
    Stuart Cantsilieris
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    PLoS ONE 7:e35255. 2012
  6. ncbi request reprint The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 45:1311-5. 2004
  7. doi request reprint The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Prog Retin Eye Res 29:520-42. 2010
  8. ncbi request reprint Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
    Hum Mutat 27:337-42. 2006
  9. ncbi request reprint A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
    Am J Ophthalmol 140:760-2. 2005
  10. ncbi request reprint The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Am J Ophthalmol 139:1125-6. 2005

Detail Information

Publications84

  1. ncbi request reprint Generating mouse models of retinal disease using ENU mutagenesis
    P N Baird
    University of Melbourne, Centre for Eye Research Australia CERA, University of Melbourne, 32 Gisborne Street, East Melbourne, 3002, Victoria, Australia
    Vision Res 42:479-85. 2002
    ..Genetic inheritance was confirmed in several of these lines including three with retinal changes...
  2. ncbi request reprint Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Victoria
    Invest Ophthalmol Vis Sci 47:4194-8. 2006
    ..This study was conducted to ascertain whether this is also true in a non-U.S. population and also whether the at-risk allele is associated with the clinical phenotype of disease and the age at diagnosis...
  3. ncbi request reprint Heritability of refractive error and ocular biometrics: the Genes in Myopia (GEM) twin study
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne 3002, Australia
    Invest Ophthalmol Vis Sci 47:4756-61. 2006
    ..A classic twin study was undertaken to assess the contribution of genes and environment to the development of refractive errors and ocular biometrics in a twin population...
  4. ncbi request reprint Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Victoria, Australia
    Clin Experiment Ophthalmol 32:518-22. 2004
    ..The aim of this study was to investigate the spectrum of mutations and gene variants in OPTN that might be present in people with glaucoma from a population-based study, the Blue Mountains Eye Study (BMES)...
  5. pmc Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration
    Stuart Cantsilieris
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    PLoS ONE 7:e35255. 2012
    ..95 1.38-41.8). This is the first report of a phenotype specific association of a CNV for a major subtype of AMD and potentially allows for pre-diagnostic identification of individuals most likely to proceed to this end stage of disease...
  6. ncbi request reprint The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 45:1311-5. 2004
    ..However, not all apoE studies have found an association, and among these the associations differ. The current study was conducted to investigate further the association of this gene in AMD...
  7. doi request reprint The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Prog Retin Eye Res 29:520-42. 2010
    ....
  8. ncbi request reprint Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
    Hum Mutat 27:337-42. 2006
    ..A gender-related factor is therefore implicated either directly or indirectly in the AMD disease process...
  9. ncbi request reprint A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
    Am J Ophthalmol 140:760-2. 2005
    ..To ascertain whether there is a common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian families with primary open-angle glaucoma (POAG)...
  10. ncbi request reprint The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Am J Ophthalmol 139:1125-6. 2005
    ..To investigate the prevalence of the Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study (BMES)...
  11. ncbi request reprint Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
    Am J Ophthalmol 138:665-6. 2004
    ....
  12. doi request reprint Gene-environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, VIC 3002, Australia
    Hum Mol Genet 17:1299-305. 2008
    ..This demonstrates for the first time the existence of a gene environment-interaction between pathogenic load of C. pneumoniae and the CFH gene in the aetiology of AMD...
  13. ncbi request reprint New era for personalized medicine: the diagnosis and management of age-related macular degeneration
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Clin Experiment Ophthalmol 37:814-21. 2009
    ..We explore the applicability and challenges of this approach if it is to become commonplace for guiding treatment decisions for individuals with pre-existing disease or for those at high risk of developing it...
  14. ncbi request reprint Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Hum Genet 112:110-6. 2003
    ..These findings indicate that the Q368STOP mutation in all 15 families shared a common origin prior to the European settlement of Australia in the early 1800s...
  15. doi request reprint Apolipoprotein E gene associations in age-related macular degeneration: the Melbourne Collaborative Cohort Study
    Madeleine K M Adams
    Center for Eye Research Australia, University of Melbourne Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Am J Epidemiol 175:511-8. 2012
    ..77 (P = 0.005)). These results highlight the importance of stratifying by smoking status in elderly populations. Smokers who survive to old age may be more likely to possess unknown genotypes which modify exposure-disease associations...
  16. doi request reprint Can genetic associations change with age? CFH and age-related macular degeneration
    Madeleine K M Adams
    Centre for Eye Research Australia, University of Melbourne Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Hum Mol Genet 21:5229-36. 2012
    ..These findings have important implications for predictive models for AMD and potentially other age-related diseases which extrapolate risks from older cohorts, as they assume homogeneity of association by age, which might not exist...
  17. ncbi request reprint Evaluation of accuracy in proband-reported family history and its determinants: the Genes in Myopia family study
    Pam Garoufalis
    Centre for Eye Research Australia, University of Melbourne, Victoria, Australia
    Optom Vis Sci 84:481-6. 2007
    ..This study aims to determine the accuracy of proband-reported family history of myopia and to assess whether demographic or clinical factors are predictive of an accurate history...
  18. doi request reprint Genetic influences on the outcome of anti-vascular endothelial growth factor treatment in neovascular age-related macular degeneration
    Farshad Abedi
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Victoria, Australia
    Ophthalmology 120:1641-8. 2013
    ..To determine the association of genetic variants in known age-related macular degeneration (AMD) risk-associated genes with outcome of anti-vascular endothelial growth factor (VEGF) treatment in neovascular AMD...
  19. doi request reprint 20/20--Alcohol and age-related macular degeneration: the Melbourne Collaborative Cohort Study
    Madeleine K M Adams
    Centre for Eye Research Australia, University of Melbourne Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia
    Am J Epidemiol 176:289-98. 2012
    ..The odds ratio for those drinking more than 20 g of alcohol per day for late AMD was 1.44 (95% confidence interval: 0.85, 2.45; P = 0.17). These results show a modest association between alcohol consumption and increased AMD risk...
  20. ncbi request reprint Genetic mapping of myopia susceptibility loci
    Maria Schache
    Centre for Eye Research Australia, The University of Melbourne, East Melbourne, Vic, Australia
    Invest Ophthalmol Vis Sci 48:4924-9. 2007
    ..In an independent yet ethnically and phenotypically similar twin cohort, linkage to these chromosomal regions was sought...
  21. doi request reprint C-reactive protein levels and complement factor H polymorphism interaction in age-related macular degeneration and its progression
    Luba Robman
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Ophthalmology 117:1982-8. 2010
    ..To determine the effect of elevated level of C-reactive protein (CRP) and its joint effect with the complement factor H (CFH) polymorphism on prevalent age-related macular degeneration (AMD) and its progression...
  22. doi request reprint A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration
    Ben J Gu
    Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia
    FASEB J 27:1479-87. 2013
    ..Failure of this P2X7-mediated phagocytic pathway may impair removal of subretinal deposits and predispose individuals toward AMD...
  23. doi request reprint Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype
    Justin C Sherwin
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Clin Experiment Ophthalmol 37:201-7. 2009
    ..The aim of this study was to describe the POAG phenotype in individuals who harbour the novel GLC1L disease-associated haplotype in a large pedigree where the Myocilin Gln368STOP mutation also segregates...
  24. doi request reprint Gene-environment interactions and aging visual function: a classical twin study
    Ruth E Hogg
    Department of Optometry and Vision Sciences, The University of Melbourne, Parkville, Victoria, Australia
    Ophthalmology 116:263-9. 2009
    ..To elucidate the contribution of environmental versus genetic factors to the significant losses in visual function associated with normal aging...
  25. doi request reprint Role of the hepatocyte growth factor gene in refractive error
    Sundar Veerappan
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Australia
    Ophthalmology 117:239-45.e1-2. 2010
    ..Several genetic loci have been associated with myopia but none to date have been reported for hypermetropia. We investigated the hepatocyte growth factor (HGF) as a candidate gene influencing these 2 refractive error states...
  26. doi request reprint Evidence of shared genes in refraction and axial length: the Genes in Myopia (GEM) twin study
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    Invest Ophthalmol Vis Sci 49:4336-9. 2008
    ..However, no study has attempted to determine whether the correlation between axial length and refraction is explained by shared genetic or environmental factors...
  27. doi request reprint Assessment of TGIF as a candidate gene for myopia
    Kelly K Pertile
    Centre for Eye Research Australia, Department of Ophthalmology University of Melbourne, 32 Gisborne Street, East Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 49:49-54. 2008
    ..This is the first study conducted to investigate the association of TGIF with refraction and ocular biometric measurements...
  28. ncbi request reprint Delay to treatment and visual outcomes in patients treated with anti-vascular endothelial growth factor for age-related macular degeneration
    Jonathan H Lim
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Am J Ophthalmol 153:678-86, 686.e1-2. 2012
    ....
  29. doi request reprint Long-term refractive outcomes and stability after excimer laser surgery for myopia
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Victoria, Australia
    J Cataract Refract Surg 36:1709-17. 2010
    ..To evaluate the long-term refractive outcomes of photorefractive keratectomy (PRK) and laser in situ keratomileusis (LASIK) for myopia...
  30. pmc Variants in the APOE gene are associated with improved outcome after anti-VEGF treatment for neovascular AMD
    Sanjeewa S Wickremasinghe
    Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 52:4072-9. 2011
    ..It has been reported that variants in some AMD-associated genes influence treatment outcome. This study showed an association of treatment outcome with variants in the apolipoprotein E (APOE) gene...
  31. doi request reprint Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD)
    Andrea J Richardson
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 50:540-3. 2009
    ..The study was conducted to evaluate whether these SNPs are also associated with AMD in persons of Anglo-Celtic ethnicity in an Australian population...
  32. doi request reprint Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study cohort
    Maria Schache
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Ophthalmology 120:292-7. 2013
    ..Our study aimed to assess the association of these 2 loci with refractive error and ocular biometric measures in an independent ethnically matched Caucasian cohort...
  33. doi request reprint Dominant genetic effects on corneal astigmatism: the genes in myopia (GEM) twin study
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 49:1339-44. 2008
    ..This study was conducted to assess the relative influence of genetics and environment on corneal astigmatism and corneal curvature in a large sample of twins...
  34. ncbi request reprint Body stature and myopia-The Genes in Myopia (GEM) twin study
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, Australia
    Ophthalmic Epidemiol 15:135-9. 2008
    ..We wished to explore the relationship of body stature and myopia using a large Australian twin cohort [The Genes in Myopia (GEM) twin study]...
  35. ncbi request reprint Mirror image congenital esotropia and concordant hypermetropia in identical twins
    Mohamed Dirani
    Centre for Eye Research Australia University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Eur J Ophthalmol 19:1073-5. 2009
    ..To report the occurrence of mirror image congenital esotropia and concordant hypermetropia in a pair of monozygotic twins...
  36. doi request reprint The role of educational attainment in refraction: the Genes in Myopia (GEM) twin study
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    Invest Ophthalmol Vis Sci 49:534-8. 2008
    ....
  37. doi request reprint An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration
    Andrea J Richardson
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 51:4932-6. 2010
    ..There is still a debate as to whether the LOC387715 or HTRA1 genes represent the key significant association identified with age-related macular degeneration (AMD) on the long arm of chromosome 10, region 26...
  38. pmc Proof of concept, randomized, placebo-controlled study of the effect of simvastatin on the course of age-related macular degeneration
    Robyn H Guymer
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    PLoS ONE 8:e83759. 2013
    ..HMG Co-A reductase inhibitors are ubiquitous in our community yet their potential role in age-related macular degeneration (AMD) remains to be determined...
  39. doi request reprint Adult-onset myopia: the Genes in Myopia (GEM) twin study
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    Invest Ophthalmol Vis Sci 49:3324-7. 2008
    ....
  40. ncbi request reprint A tag-single nucleotide polymorphisms approach to the vascular endothelial growth factor-A gene in age-related macular degeneration
    Andrea J Richardson
    Centre for Eye Research Australia, University of Melbourne, Australia
    Mol Vis 13:2148-52. 2007
    ..We undertook a case-control association study to investigate the VEGF-A gene, a known angiogenic gene that has previously been associated with AMD...
  41. doi request reprint Myopia and personality: the genes in myopia (GEM) personality study
    Robert van de Berg
    Centre for Eye Research Australia, The University of Melbourne, Melbourne, Australia
    Invest Ophthalmol Vis Sci 49:882-6. 2008
    ..However, existing research on this question is flawed, and its findings are inconsistent. The authors therefore aimed to determine whether myopia and personality are associated...
  42. ncbi request reprint Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration
    Robyn H Guymer
    Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, East Melbourne, Victoria, Australia
    Clin Experiment Ophthalmol 30:419-23. 2002
    ..The aim of this study was to determine whether the same disease allele was also associated with other forms of early onset drusen or familial cases of age-related macular degeneration...
  43. doi request reprint Abdominal obesity and age-related macular degeneration
    Madeleine K M Adams
    Centre for Eye Research Australia, University of Melbourne Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Am J Epidemiol 173:1246-55. 2011
    ..New data are provided on complex interactions between environmental exposures and AMD risk...
  44. ncbi request reprint Refractive errors in twin studies
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, Australia Vision Cooperative Research Centre, Sydney, Australia
    Twin Res Hum Genet 9:566-72. 2006
    ..5 to .9. This article will review those twin studies that have investigated refractive error, particularly myopia, as well as biometric measures linked to refractive error, to compare heritability estimates and methodology designs...
  45. pmc The retinoic acid receptor alpha (RARA) gene is not associated with myopia, hypermetropia, and ocular biometric measures
    S Veerappan
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne 3002, Australia
    Mol Vis 15:1390-7. 2009
    ..To test for whether RARA is associated with myopia we have undertaken a case-control study assessing for associations between RARA and myopia, hypermetropia, and ocular biometric measures...
  46. ncbi request reprint Dietary patterns and their associations with age-related macular degeneration: the melbourne collaborative cohort study
    Fakir M Amirul Islam
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia
    Ophthalmology 121:1428-1434.e2. 2014
    ..To evaluate the association between dietary patterns and age-related macular degeneration (AMD)...
  47. doi request reprint Evaluating the association between keratoconus and the corneal thickness genes in an independent Australian population
    Srujana Sahebjada
    Ocular Genetics Unit, Centre for Eye Research Australia, East Melbourne, Australia
    Invest Ophthalmol Vis Sci 54:8224-8. 2013
    ..We aimed to assess whether genetic associations existed for these loci with KC or corneal curvature in an independent cohort of European ancestry...
  48. doi request reprint The prevalence and risk factors of epiretinal membranes: the Melbourne Collaborative Cohort Study
    Khin Z Aung
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Retina 33:1026-34. 2013
    ..To determine the prevalence of epiretinal membranes (ERMs) in Melbourne, Australia and its risk factors in this population...
  49. ncbi request reprint Evidence for a novel glaucoma locus at chromosome 3p21-22
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, VIC 3002, Australia
    Hum Genet 117:249-57. 2005
    ..These findings provide evidence of a new autosomal dominant glaucoma locus on the short arm of chromosome 3...
  50. ncbi request reprint Vision-related quality of life comparison for emmetropes, myopes after refractive surgery, and myopes wearing spectacles or contact lenses
    Christine Y Chen
    Ocular Genetics Unit, Centre for Eye Research Australia, University of Melbourne, 32 Gisborne St, East Melbourne, VIC 3002, Australia
    J Refract Surg 23:752-9. 2007
    ..To compare the vision-related quality of life among emmetropes, myopes who had refractive surgery, and myopes who wore spectacles and/or contact lenses...
  51. ncbi request reprint Impact of keratoconus in the better eye and the worse eye on vision-related quality of life
    Srujana Sahebjada
    Centre for Eye Research Australia, Melbourne, Australia
    Invest Ophthalmol Vis Sci 55:412-6. 2014
    ..We assessed the impact of keratoconus disease indicators in the better eye and worse eye on quality of life (QoL) using the Vision and Quality of Life Index (VisQoL) multi-attribute utility instrument (MAUI)...
  52. doi request reprint Variants in the VEGFA gene and treatment outcome after anti-VEGF treatment for neovascular age-related macular degeneration
    Farshad Abedi
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Victoria, Australia
    Ophthalmology 120:115-21. 2013
    ..To determine the association of genetic variants of the VEGFA gene with outcome of anti-vascular endothelial growth factor (VEGF) treatment in neovascular age-related macular degeneration (AMD)...
  53. pmc Assessment of the association of matrix metalloproteinases with myopia, refractive error and ocular biometric measures in an Australian cohort
    Maria Schache
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    PLoS ONE 7:e47181. 2012
    ..Our data suggests that the MMPs in the collagenase, gelatinase and stromelysin categories do not appear to be associated with myopia, refractive error or ocular biometric measures in this cohort...
  54. doi request reprint Analysis of glutathione S-transferase Pi isoform (GSTP1) single-nucleotide polymorphisms and macular telangiectasia type 2
    Joshua A Szental
    The Alfred Hospital, Commercial Road, Prahran, Melbourne, Vic, 3181, Australia
    Int Ophthalmol 30:645-50. 2010
    ..The biological plausibility of disturbed macular pigment uptake in MT2 makes GSTP1 an excellent candidate gene. Further investigation is warranted in future studies of MT2...
  55. doi request reprint Identification of urinary biomarkers for age-related macular degeneration
    Robyn H Guymer
    Centre for Eye Research Australia CERA, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 52:4639-44. 2011
    ....
  56. ncbi request reprint Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
    J E Craig
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    Ophthalmology 108:1607-20. 2001
    ..We have not observed simple autosomal dominant inheritance patterns for POAG in these pedigrees. Other factors, as yet uncharacterized, are involved in expression of the POAG phenotype in Gln368STOP pedigrees...
  57. ncbi request reprint Predictors of anti-VEGF treatment response in neovascular age-related macular degeneration
    Robert P Finger
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia Department of Ophthalmology, University of Bonn, Germany Electronic address
    Surv Ophthalmol 59:1-18. 2014
    ....
  58. doi request reprint Association of the hepatocyte growth factor gene with keratoconus in an Australian population
    Srujana Sahebjada
    Centre for Eye Research Australia, Melbourne, Australia The University of Melbourne, Melbourne, Australia
    PLoS ONE 9:e84067. 2014
    ..We wished to assess this association in an independent Caucasian cohort as well as assess its association with corneal curvature...
  59. ncbi request reprint Mirror-image congenital esotropia in monozygotic twins
    Mohamed Dirani
    Centre for Eye Research Australia, University of Melbourne, Australia
    J Pediatr Ophthalmol Strabismus 43:170-1. 2006
    ..One had right congenital esotropia surgically corrected during childhood, and the other had left congenital esotropia surgically corrected at 3 and 6 years old...
  60. pmc Can HMG Co-A reductase inhibitors ("statins") slow the progression of age-related macular degeneration? The age-related maculopathy statin study (ARMSS)
    Robyn H Guymer
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Victoria, Australia
    Clin Interv Aging 3:581-93. 2008
    ..Information collected in this study will assist in the assessment of the potential value of HMG Co-A reductase inhibitors (statins) in reducing the risk of AMD progression...
  61. ncbi request reprint Recent patents relating to diagnostic advances in age related macular degeneration (AMD)
    Stuart Cantsilieris
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Victoria, Australia
    Recent Pat DNA Gene Seq 3:102-13. 2009
    ..The patents discussed in this review highlight the important discoveries that have contributed to our understanding of AMD and provide valuable information as to where research in this area will be heading in the future...
  62. ncbi request reprint Blood storage at 4 degrees C-factors involved in DNA yield and quality
    Andrea J Richardson
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
    J Lab Clin Med 147:290-4. 2006
    ..However, long-term storage usually involves blood being frozen, with a resultant loss in DNA yield. The authors examined the effects of long-term storage at 4 degrees C...
  63. ncbi request reprint Methodology and recruitment of probands and their families for the Genes in Myopia (GEM) Study
    Pam Garoufalis
    Centre for Eye Research Australia, University of Melbourne, Australia
    Ophthalmic Epidemiol 12:383-92. 2005
    ..The purpose of this paper is to describe the methodology and recruitment of probands and families for the GEM Study...
  64. ncbi request reprint The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma
    P N Baird
    Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    Am J Ophthalmol 131:510-1. 2001
    ..To identify a rapid and reliable method to detect the Glutamine 368 STOP (Q368STOP) disease-predisposing allele of the myocilin gene associated with adult onset, primary, open-angle glaucoma...
  65. pmc The hepatocyte growth factor receptor (MET) gene is not associated with refractive error and ocular biometrics in a Caucasian population
    M Schache
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Mol Vis 15:2599-605. 2009
    ..The purpose of this study was to determine if genetic variants in the hepatocyte growth factor receptor (MET) gene are associated with refractive error and ocular biometric measures in a Caucasian cohort...
  66. doi request reprint The role of birth weight in myopia--the genes in myopia twin study
    M Dirani
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Vic, Australia
    Ophthalmic Res 41:154-9. 2009
    ..It was the aim of this study to assess the role of birth weight in the development of myopia using a large cohort of Caucasian monozygotic (MZ) and dizygotic (DZ) twins that took part in the Genes in Myopia (GEM) twin study...
  67. ncbi request reprint Testing protocol and recruitment in the genes in myopia twin study
    M Dirani
    Centre for Eye Research Australia, The University of Melbourne, Melbourne, Victoria, Australia
    Ophthalmic Epidemiol 15:140-7. 2008
    ..This manuscript will provide a detailed outline of the methodological design, twin recruitment, and the prevalence of myopia in the genes in myopia twin study...
  68. doi request reprint Role of genetic factors in lower- and higher-order aberrations--the genes in myopia twin study
    M Dirani
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Vic, Australia
    Ophthalmic Res 41:142-7. 2009
    ..To our knowledge, the Genes in Myopia twin study is the first study to explore the role of genetic factors in both lower- and higher-order aberrations in a Caucasian population...
  69. ncbi request reprint Assessment of anterior segment parameters of keratoconus eyes in an Australian population
    Srujana Sahebjada
    BSOptom, PhD PhD FRANZCO Centre for Eye Research Australia, East Melbourne, Victoria, Australia all authors The University of Melbourne, East Melbourne, Victoria, Australia SS, PNB and Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia GS, MD
    Optom Vis Sci 91:803-9. 2014
    ..To assess anterior segment parameters of eyes with keratoconus (KC) at different clinical stages of disease...
  70. doi request reprint The Australian Twin Registry as a resource for genetic studies into ophthalmic traits
    Maria Schache
    Royal Victorian Eye and Ear Hospital, University of Melbourne, Australia
    Twin Res Hum Genet 16:52-7. 2013
    ..An overview of these studies is provided in this review, as well as a description of the recruitment methodologies for both the ATES and GEM studies...
  71. doi request reprint Outcomes of laser refractive surgery for myopia
    Eng K Ang
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    J Cataract Refract Surg 35:921-33. 2009
    ..Studies with a minimum follow-up of 1 year with at least 2 of the 3 major outcome measures--efficacy, stability, and safety--were reviewed, and how the findings were affected by differences in ethnicity was assessed...
  72. ncbi request reprint Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication
    Stuart Cantsilieris
    Centre for Genetic Diseases, MIMR PHI Institute of Medical Research, Monash University, 27 31 Wright Street, Clayton 3168, Victoria, Australia
    BMC Genomics 15:329. 2014
    ..Therefore any technique prone to degrees of measurement error can produce ambiguous results that may lead to spurious associations with complex disease...
  73. pmc Androgen receptor repeat length polymorphism associated with male-to-female transsexualism
    Lauren Hare
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, Melbourne, Australia
    Biol Psychiatry 65:93-6. 2009
    ..Specifically, we assessed the role of disease-associated repeat length polymorphisms in the androgen receptor (AR), estrogen receptor beta (ERbeta), and aromatase (CYP19) genes...
  74. ncbi request reprint Heritability of macular thickness determined by optical coherence tomography
    Matthew D Chamberlain
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    Invest Ophthalmol Vis Sci 47:336-40. 2006
    ..To examine whether genetic factors significantly influence macular thickness in healthy older subjects...
  75. doi request reprint Animal models of retinal disease
    Erica L Fletcher
    Department of Anatomy and Cell Biology, The University of Melbourne, Parkville, Victoria, Australia
    Prog Mol Biol Transl Sci 100:211-86. 2011
    ..We also examine how transgenic technologies have helped to develop our understanding of the role of isolated genes or pathways in complex diseases like AMD, diabetes, and glaucoma...
  76. ncbi request reprint Analysis of the EFEMP1 gene in individuals and families with early onset drusen
    N Narendran
    Centre for Eye Research Australia, University of Melbourne, 3002 Melbourne, Australia
    Eye (Lond) 19:11-5. 2005
    ..We wished to ascertain the involvement of the EFEMP1 gene in our population of sporadic and familial subjects presenting with early onset drusen and their affected relatives...
  77. ncbi request reprint Linkage replication of the MYP12 locus in common myopia
    Christine Y Chen
    Eye Research Australia, Australia
    Invest Ophthalmol Vis Sci 48:4433-9. 2007
    ..This study reports the successful replication of MYP12 in three large, multigenerational families with autosomal dominant (AD) common myopia (spherical equivalent [SphE] </= -0.50 D)...
  78. ncbi request reprint Analysis of the RDS/peripherin gene in age-related macular degeneration
    Paul N Baird
    Clin Experiment Ophthalmol 35:194-5. 2007
  79. ncbi request reprint Identification of a mutation in the PKD2 gene in a family with age-related macular degeneration
    Niro Narendran
    Am J Med Genet A 127:208-10. 2004
  80. doi request reprint Novel sequence elements define ancestral haplotypes of the region encompassing complement factor H
    Joseph F Williamson
    CY O Connor ERADE Village Foundation, Canning Vale, Western Australia
    Hum Immunol 69:207-19. 2008
    ..We show for the first time that simple algorithms can identify genomic sequence elements that appear to be more useful haplospecific markers than single nucleotide polymorphism or microsatellites...
  81. ncbi request reprint Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree
    Jac C Charlesworth
    Menzies Research Institute, University of Tasmania, Hobart, Australia
    Invest Ophthalmol Vis Sci 46:3723-9. 2005
    ..The purpose of this study was to identify genetic contributions to primary open-angle glaucoma (POAG) through investigations of two quantitative components of the POAG phenotype...
  82. ncbi request reprint Marked discordance for myopia in female monozygotic twins
    Mohammed Dirani
    Clin Experiment Ophthalmol 34:285-7. 2006
    ..50/plano, left eye = -0.50/+0.75 x 40 degrees ). An explanation for the striking refractive discordance seen in this case report is yet to be determined...
  83. ncbi request reprint Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people
    Alex W Hewitt
    Flinders Medical Centre, Department of Ophthalmology, Flinders University, Adelaide, Australia
    Hum Mol Genet 17:710-6. 2008
    ..This strongly suggests that as yet unidentified genetic or environmental factors independent of LOXL1 strongly influence the phenotypic expression of the syndrome...
  84. ncbi request reprint Concordant bilateral Duane's Retraction Syndrome (type 1) in female monozygotic twins
    Mohamed Dirani
    Clin Experiment Ophthalmol 34:495-7. 2006
    ..To our knowledge this is the first case to report concordant bilateral DRS (type 1) in female MZ twins. The concordance for the presence of DRS and associated clinical signs observed in this MZ twin pair supports a genetic origin to DRS...