D A Mackey

Summary

Affiliation: University of Tasmania
Country: Australia

Publications

  1. doi Reliability and validity of conjunctival ultraviolet autofluorescence measurement
    Justin C Sherwin
    Department of Ophthalmology, Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia
    Br J Ophthalmol 96:801-5. 2012
  2. ncbi Predictive DNA testing for glaucoma: reality in 2003
    David A Mackey
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Ophthalmol Clin North Am 16:639-45. 2003
  3. doi Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins
    David A Mackey
    Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Australia
    Twin Res Hum Genet 12:441-54. 2009
  4. ncbi 2005 Gregg Lecture: Congenital cataract--from rubella to genetics
    David A Mackey
    Eye Clinic, Royal Hobart Hospital, University of Tasmania, Hobart, Tasmania, Australia
    Clin Experiment Ophthalmol 34:199-207. 2006
  5. ncbi Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q
    Gu Zhu
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia
    Ophthalmology 115:1053-1057.e2. 2008
  6. ncbi Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus
    D A Mackey
    Department of Ophthalmology, Centre for Eye Research, Australia Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Eye (Lond) 17:312-7. 2003
  7. doi Gillies lecture: dissecting glaucoma: understanding the molecular risk factors
    David A Mackey
    University of Tasmania, Hobart, Tasmania, Australia
    Clin Experiment Ophthalmol 36:403-9. 2008
  8. doi Classification of iris colour: review and refinement of a classification schema
    David A Mackey
    Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia, Australia
    Clin Experiment Ophthalmol 39:462-71. 2011
  9. pmc Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family
    D A Mackey
    Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia
    Mol Vis 17:2118-28. 2011
  10. doi The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (biometry of the bounty)
    David A Mackey
    Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia
    Twin Res Hum Genet 14:42-52. 2011

Detail Information

Publications107 found, 100 shown here

  1. doi Reliability and validity of conjunctival ultraviolet autofluorescence measurement
    Justin C Sherwin
    Department of Ophthalmology, Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia
    Br J Ophthalmol 96:801-5. 2012
    ..The reliability of this measurement and its relationship to outdoor activity are currently unknown...
  2. ncbi Predictive DNA testing for glaucoma: reality in 2003
    David A Mackey
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Ophthalmol Clin North Am 16:639-45. 2003
    ..Although many of the more recently described genetic associations of POAG require more thorough evaluation, Myocilin gene testing can and should be offered for young-onset severe glaucoma cases with a positive family history...
  3. doi Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins
    David A Mackey
    Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Australia
    Twin Res Hum Genet 12:441-54. 2009
    ....
  4. ncbi 2005 Gregg Lecture: Congenital cataract--from rubella to genetics
    David A Mackey
    Eye Clinic, Royal Hobart Hospital, University of Tasmania, Hobart, Tasmania, Australia
    Clin Experiment Ophthalmol 34:199-207. 2006
    ..At least one-fifth of congenital cataract is familial. Understanding the genetics of familial cataract will lead to better treatment of congenital as well as age-related cataract...
  5. ncbi Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q
    Gu Zhu
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia
    Ophthalmology 115:1053-1057.e2. 2008
    ..To estimate heritability and locate quantitative trait loci influencing axial length...
  6. ncbi Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus
    D A Mackey
    Department of Ophthalmology, Centre for Eye Research, Australia Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Eye (Lond) 17:312-7. 2003
    ..To describe the clinical features of two cases of Leber's hereditary optic neuropathy (LHON) precipitated by antiretroviral treatment for human immunodeficiency virus (HIV) infection...
  7. doi Gillies lecture: dissecting glaucoma: understanding the molecular risk factors
    David A Mackey
    University of Tasmania, Hobart, Tasmania, Australia
    Clin Experiment Ophthalmol 36:403-9. 2008
    ..Recently, the LOXL1 gene was associated with XFS. Identification of further genes will improve our understanding of glaucoma and allow cascade genetic screening...
  8. doi Classification of iris colour: review and refinement of a classification schema
    David A Mackey
    Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia, Australia
    Clin Experiment Ophthalmol 39:462-71. 2011
    ..Digital publishing and assessment of iris colour will result in more standardized classification of iris colour and investigation of its role in eye disease...
  9. pmc Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family
    D A Mackey
    Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia
    Mol Vis 17:2118-28. 2011
    ....
  10. doi The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (biometry of the bounty)
    David A Mackey
    Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia
    Twin Res Hum Genet 14:42-52. 2011
    ..To describe the recruitment, ophthalmic examination methods and distribution of ocular biometry of participants in the Norfolk Island Eye Study, who were individuals descended from the English Bounty mutineers and their Polynesian wives...
  11. ncbi 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...
  12. pmc A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
    K P Burdon
    Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia
    J Med Genet 41:e106. 2004
  13. pmc Investigation of crystallin genes in familial cataract, and report of two disease associated mutations
    K P Burdon
    Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia
    Br J Ophthalmol 88:79-83. 2004
    ..Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia...
  14. doi The natural history of OPA1-related autosomal dominant optic atrophy
    A C Cohn
    Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Br J Ophthalmol 92:1333-6. 2008
    ..However, a large proportion of this disease is accounted for by mutations in OPA1. The aim of this longitudinal study was to investigate disease progression in Australian ADOA patients with confirmed OPA1 mutations...
  15. pmc Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations
    A C Cohn
    Department of Ophthalmology Melbourne, Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia
    Eye (Lond) 25:208-17. 2011
    ....
  16. pmc The role of the Met98Lys optineurin variant in inherited optic nerve diseases
    J E Craig
    Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia 5042, Australia
    Br J Ophthalmol 90:1420-4. 2006
    ..To investigate the role of the common OPTN Met98Lys variant as a risk allele in open-angle glaucoma (OAG), autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON)...
  17. ncbi Leber hereditary optic neuropathy in Australia
    D A Mackey
    Department of Ophthalmology, Royal Children s Hospital, Melbourne, Victoria, Australia
    Aust N Z J Ophthalmol 20:177-84. 1992
    ..There are over 1750 male and female carriers living in Australia who have not yet lost vision; 600 carriers are under 24 years of age. The expected number of new cases of blindness from LHON is three to four per year...
  18. ncbi 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...
  19. doi RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population
    J B Ruddle
    Centre for Eye Research Australia, 32 Gisborne St, East Melbourne 3002, Australia
    Br J Ophthalmol 93:1151-4. 2009
    ..Exon open reading frame 15 (ORF15) is a purine-rich mutation hotspot. Mutations in RPGR ORF15 have also been documented to cause X linked cone-rod dystrophy (XLCORD) and atrophic macular degeneration at an unknown frequency...
  20. ncbi Laboratory methods in ophthalmic genetics: obtaining DNA from patients
    J L Dickinson
    Menzies Centre for Population Health Research, University of Tasmania, Hobart, Tasmania, Australia
    Ophthalmic Genet 22:49-60. 2001
    ..This article reviews the issues surrounding the choice of biological samples for methods of DNA extraction as well as the storage and transport of biological and DNA samples for genetic studies...
  21. ncbi Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma
    D P Dimasi
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Clin Genet 72:255-60. 2007
    ..Our data also supported the high degree of allelic heterogeneity seen in similar studies from other ethnic populations, thereby underscoring the fact that other PCG-related genes remain to be identified...
  22. ncbi Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals
    Alex W Hewitt
    Clinical Genetics Unit, Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Arch Ophthalmol 125:98-104. 2007
    ..To determine the phenotype of an Australian pedigree with the myocilin (MYOC) Gly252Arg mutation, comparing it with other pedigrees carrying the same mutation...
  23. ncbi Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family
    Jac C Charlesworth
    Menzies Research Institute, Hobart, Tasmania, Australia
    Ophthalmologica 220:23-30. 2006
    ..These results provide supportive evidence for the GLC1B locus on chromosome 2cen-q13 and verify the existence of POAG susceptibility gene in this region, increasing the likelihood of gene identification...
  24. ncbi Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family
    Danielle L Healey
    Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    J Glaucoma 13:304-11. 2004
    ..We wished to determine the attitudes of affected and unaffected family members to the use of predictive DNA testing in glaucoma...
  25. ncbi 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...
  26. ncbi Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
    D A Mackey
    University of Melbourne, Department of Ophthalmology, Victoria, Australia
    Eye (Lond) 8:431-6. 1994
    ..They had the common 11778 G to A or the 3460 G to A mutations. Thus mitochondrial genotypes in LHON are associated with variable phenotypes...
  27. ncbi 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)...
  28. doi 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...
  29. ncbi A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases
    Alex W Hewitt
    Department of Ophthalmology, Flinders University, Adelaide, and Glaucoma Research Unit, Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Am J Ophthalmol 141:402-3. 2006
    ..To describe the phenotype of an individual homozygous for the common Gln368STOP myocilin mutation and to discuss the other family members...
  30. ncbi Myocilin allele-specific glaucoma phenotype database
    Alex W Hewitt
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Hum Mutat 29:207-11. 2008
    ..The large-scale assimilation of relevant data allows for accurate comprehensive genetic counseling and the translation of genomic information into the clinic...
  31. ncbi 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...
  32. ncbi 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)...
  33. ncbi Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation
    David A Mackey
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    Arch Ophthalmol 121:1172-80. 2003
    ..To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the myocilin mutation Thr377Met. Method and..
  34. ncbi 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...
  35. pmc Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds
    Alex W Hewitt
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Mol Vis 13:487-92. 2007
    ..The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds...
  36. ncbi The optic nerve head in myocilin glaucoma
    Alex W Hewitt
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Invest Ophthalmol Vis Sci 48:238-43. 2007
    ..Approximately 1 in 30 unselected patients with open-angle glaucoma (OAG) have a mutation in the myocilin gene. The purpose of this study was to describe the morphologic features of the optic nerve head (ONH) in myocilin glaucoma...
  37. ncbi Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees
    Sonya L Bennett
    Glaucoma Research Unit and Clinical Genetic Unit, Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
    Arch Ophthalmol 125:112-6. 2007
    ..To investigate whether structural differences of the optic nerve head are evident in young people who do not have manifest glaucoma but are known to carry myocilin mutations...
  38. ncbi Sporadic Leber hereditary optic neuropathy in Australia and New Zealand
    C Chan
    University of Melbourne, Department of Ophthalmology, St Vincents Hospital, Victoria, Australia
    Aust N Z J Ophthalmol 24:7-14. 1996
    ..We concluded that mtDNA testing for LHON in patients with idiopathic optic atrophy should be included in the initial laboratory work-up...
  39. ncbi Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia
    Alex W Hewitt
    Department of Ophthalmology, Royal Hobart Hospital, Hobart, Tasmania
    Clin Experiment Ophthalmol 33:233-9. 2005
    ..The aim of the present study was to review both the phenotypic features of XLRS and the mutation spectrum of the RS1 gene in an Australian cohort...
  40. ncbi Complex genetics of complex traits: the case of primary open-angle glaucoma
    Alex W Hewitt
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Clin Experiment Ophthalmol 34:472-84. 2006
    ..This review explores the genetic mechanisms that have been unequivocally linked to the glaucomatous process and then discusses potential avenues for future breakthroughs...
  41. ncbi The apolipoprotein epsilon4 gene is associated with elevated risk of normal tension glaucoma
    James C Vickers
    School of Medicine, University of Tasmania, Hobart, Tasmania, Australia
    Mol Vis 8:389-93. 2002
    ..Thus, we have investigated the association of inheritance of apolipoprotein E allelic isoforms (epsilon2, [epsilon]3, and epsilon4) with relative risk for different forms of glaucoma...
  42. doi Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study
    Cong Sun
    Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, 1 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Hypertension 54:788-95. 2009
    ..0 x 10(-4)). In this large twin population, genetic factors appear to play a significant role in the variation of retinal vascular caliber. Several putative loci were identified for the retinal vascular caliber...
  43. ncbi Inhaled corticosteroids, family history, and risk of glaucoma
    P Mitchell
    Department of Ophthalmology, University of Sydney, New South Wales, Australia
    Ophthalmology 106:2301-6. 1999
    ..The authors aimed to (1) identify whether an association existed between inhaled corticosteroid use and elevated IOP or open-angle glaucoma and (2) determine whether this effect may have a genetic basis...
  44. pmc Overview. Predictive DNA testing in ophthalmology
    D A Mackey
    Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Br J Ophthalmol 87:637-8. 2003
  45. pmc Retinopathy of prematurity: recent advances in our understanding
    C M Wheatley
    Discipline of Biochemistry, University of Tasmania, Hobart, Tasmania 7001, Australia
    Arch Dis Child Fetal Neonatal Ed 87:F78-82. 2002
    ..In the meantime, development and implementation of appropriate screening and treatment strategies will be critical in reducing blindness in developing countries...
  46. ncbi The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: the Twins Eye Study in Tasmania
    A L Ponsonby
    Menzies Institute, University of Tasmania, Australia
    Ophthalmic Epidemiol 14:351-9. 2007
    ..To investigate the association between maternal smoking in pregnancy, early-life environment and childhood vision...
  47. pmc Nail-patella syndrome and its association with glaucoma: a review of eight families
    Z Mimiwati
    Department of Ophthalmology, Eye Research, University of Melbourne, Victoria 3002, Australia
    Br J Ophthalmol 90:1505-9. 2006
    ..Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated with NPS...
  48. pmc Genetic influences on handedness: data from 25,732 Australian and Dutch twin families
    Sarah E Medland
    Queensland Institute of Medical Research, Australia
    Neuropsychologia 47:330-7. 2009
    ..17, 27.09%) with the remainder accounted for by non-shared environmental influences. The implications of these findings for handedness both as a primary phenotype and as a covariate in linkage and association analyses are discussed...
  49. ncbi Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers
    Colleen H Wilkinson
    Center for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisbourne Street, East Melbourne, Australia 3002
    J Glaucoma 12:237-42. 2003
    ..To demonstrate the effect in vivo of the myocilin gene mutation Thr377Met on outflow facility of aqueous humor, as measured by tonography...
  50. ncbi 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...
  51. doi Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: the Australian Twins Eye Study
    Cong Sun
    Centre for Eye Research, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Am J Ophthalmol 150:909-16. 2010
    ..To examine the relationship of birth weight with ocular measures in a Caucasian twin population...
  52. doi Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia
    Hum Genet 127:33-44. 2010
    ....
  53. doi Mortality in primary open-angle glaucoma: 'two cupped discs and a funeral'
    A W Hewitt
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Eye (Lond) 24:59-63. 2010
    ..The aim of this study was to investigate the causes of mortality in individuals with open-angle glaucoma (OAG)...
  54. pmc Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study
    J C Sherwin
    Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia
    Eye (Lond) 25:893-900. 2011
    ..The objective of this study was to describe the distribution of conjunctival ultraviolet autofluorescence (UVAF) in an adult population...
  55. doi Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania
    Cong Sun
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    Hypertension 53:487-93. 2009
    ..The independent effect of shorter birth length on retinal arteriolar caliber supports a role for twin-specific supply line factors affecting fetal growth on vascular structure...
  56. ncbi Disease severity of familial glaucoma compared with sporadic glaucoma
    Johnny Wu
    Department of Ophthalmology, Royal Hobart Hospital, University of Tasmania, Hobart, Tasmania, Australia
    Arch Ophthalmol 124:950-4. 2006
    ..To determine whether there is a difference in disease severity between familial and sporadic primary open-angle glaucoma (POAG)...
  57. ncbi Heritable features of the optic disc: a novel twin method for determining genetic significance
    Alex W Hewitt
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Invest Ophthalmol Vis Sci 48:2469-75. 2007
    ..Numerous genetic diseases and environmental stimuli affect optic nerve morphology. The purpose of this study was to identify the principal heritable components of visible optic nerve head structures in a population-based sample of twins...
  58. doi The 'I' in personalized genetics: 2008 Ian Constable lecture
    David A Mackey
    Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Western Australia
    Clin Experiment Ophthalmol 37:434-43. 2009
    ..However, as identical twins show us, for some conditions our genes do not absolutely determine our destiny and environmental factors interact with our genetic profile...
  59. pmc Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Mol Vis 14:1799-804. 2008
    ..To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36...
  60. ncbi PAX6 mutations may be associated with high myopia
    Alex W Hewitt
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Ophthalmic Genet 28:179-82. 2007
    ..Thus, our observations generally support other incidental findings, that PAX6 mutation, particularly predicted haploinsufficiency, may be associated with extreme refractive error, although the mechanism by which this occurs is not clear...
  61. pmc Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Mol Vis 16:562-9. 2010
    ..As CCT is an identified risk factor for open-angle glaucoma, understanding the genes involved in CCT determination could improve our understanding of the mechanisms involved in this association...
  62. pmc Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
    Kathryn P Burdon
    Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia
    Am J Hum Genet 73:1120-30. 2003
    ....
  63. ncbi Familial transmission risk of infantile glaucoma in Australia
    Alex W Hewitt
    University of Tasmania, Royal Hobart Hospital, Hobart, Australia
    Ophthalmic Genet 27:93-7. 2006
    ..The purpose of this study was to determine the likelihood of a person who has infantile glaucoma to produce a child who also manifests the disease...
  64. ncbi Primary infantile glaucoma in an Australian population
    Jane R MacKinnon
    Department of Ophthalmology, Royal Children s Hospital, Melbourne, Victoria, Australia
    Clin Experiment Ophthalmol 32:14-8. 2004
    ....
  65. ncbi 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)...
  66. ncbi The PITX3 gene in posterior polar congenital cataract in Australia
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia
    Mol Vis 12:367-71. 2006
    ..Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant congenital cataract...
  67. pmc Aetiology of congenital and paediatric cataract in an Australian population
    M G Wirth
    Department of Ophthalmology, Royal Children s Hospital, Melbourne, Australia
    Br J Ophthalmol 86:782-6. 2002
    ..The aim was to determine the incidence of cataract in a population, the proportion of hereditary cataracts, the mode of inheritance, and the clinical presentation...
  68. doi Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania
    Alex W Hewitt
    Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Acta Ophthalmol 88:70-4. 2010
    ..This aim of this study was to compare the prevalence of various disease-associated and potentially modifiable risk factors between people with familial and sporadic forms of primary open angle glaucoma (OAG)...
  69. ncbi Central corneal thickness is highly heritable: the twin eye studies
    Tze Yo Toh
    University of Tasmania, The Eye Hospital, Launceston, Australia
    Invest Ophthalmol Vis Sci 46:3718-22. 2005
    ..A classic twin study was performed to determine the heritability of central corneal thickness (CCT), an important parameter in glaucoma assessment...
  70. pmc Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease
    Liesel M FitzGerald
    Genetics Unit, Menzies Research Institute, University of Tasmania, Hobart, Australia
    Eur J Hum Genet 17:368-77. 2009
    ..Although the functional SNP remains to be identified, considerable circumstantial evidence, provided by in vivo and in vitro studies, supports a role for ITGA2 in tumour development...
  71. ncbi Visual field assessment and the Austroads driving standard
    Isabel M McLean
    Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital
    Clin Experiment Ophthalmol 30:3-7. 2002
    ....
  72. doi Genetic isolates in ophthalmic diseases
    Justin C Sherwin
    Department of Ophthalmology, Centre for Eye Research Australia, University of Melbourne, elbourne, Australia
    Ophthalmic Genet 29:149-61. 2008
    ..This review focuses on the role population isolates have had in the investigation of genes underlying complex eye diseases and discusses their likely usefulness given the expansion of large-scale case-control association studies...
  73. pmc Genetic analysis of the clusterin gene in pseudoexfoliation syndrome
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Mol Vis 14:1727-36. 2008
    ..We investigated the association of genetic variants across CLU in pseudoexfoliation syndrome and analyzed molecular characteristics of the encoded protein in ocular tissues...
  74. pmc Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness
    Yi Lu
    Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    PLoS Genet 6:e1000947. 2010
    ..Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population...
  75. pmc A novel locus for X-linked congenital cataract on Xq24
    Jamie E Craig
    Department of Ophthalmology, Flinders University, Adelaide, SA, Australia
    Mol Vis 14:721-6. 2008
    ..This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype...
  76. ncbi Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations
    Jamie E Craig
    Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria
    Arch Ophthalmol 121:1753-61. 2003
    ..To provide a comprehensive description of the clinical presentations, cataract morphology, and molecular basis of hereditary hyperferritinemia-cataract syndrome (HHCS) in 4 Australian pedigrees and to estimate its prevalence...
  77. ncbi How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania
    Catherine M Green
    Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania, Australia
    Clin Experiment Ophthalmol 35:793-9. 2007
    ..To determine what proportion of primary open angle glaucoma (POAG) in Tasmania, Australia is familial...
  78. ncbi Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
    David A Mackey
    Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Hum Genet 110:510-2. 2002
    ..0...
  79. ncbi Are Duane syndrome and infantile esotropia allelic?
    Benjamin J Connell
    CERA, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Australia
    Ophthalmic Genet 25:189-98. 2004
    ..To evaluate the clinical overlap of families with Duane syndrome and infantile esotropia to determine whether the identification of genes for Duane syndrome may explain some cases of infantile esotropia...
  80. doi Retinal vascular caliber: systemic, environmental, and genetic associations
    Cong Sun
    Centre for Eye Research Australia, University of Melbourne, Victoria, Australia
    Surv Ophthalmol 54:74-95. 2009
    ....
  81. ncbi Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter
    Amy C Cohn
    Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, Eats Melbourne, VIC 3002, Australia
    Ophthalmic Genet 26:45-53. 2005
    ..To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma...
  82. ncbi Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma
    Chandrakumar Balaratnasingam
    Centre for Ophthalmology and Visual Science, Lions Eye Institute, The University of Western Australia, Perth, Australia
    Ophthalmic Genet 28:157-62. 2007
    ..To report the presence of dense and abnormal iris processes in the unaffected parents and sibling of a non consanguineous family where 3 children out of 4 suffer from primary infantile glaucoma (PIG)...
  83. doi Rock, paper and scissors? Traumatic paediatric cataract in Victoria 1992-2006
    Sandra E Staffieri
    Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, 32 Gisborne Street, East Melbourne, VIC 3002, Australia
    Clin Experiment Ophthalmol 38:237-41. 2010
    ..To review visual acuity outcomes from paediatric traumatic cataract and examine the mechanisms by which they occur...
  84. ncbi A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Bedford Park, Australia
    Hum Mutat 28:742. 2007
    ..The initial primers for amplifying the IRE similar to those used by other researchers failed to detect this mutation. Therefore the genomic region assessed in HHCS cases for diagnosis should be expanded to include mutations of this type...
  85. doi A geometric morphometric assessment of the optic cup in glaucoma
    Paul G Sanfilippo
    Centre for Eye Research Australia, University of Melbourne, Australia
    Exp Eye Res 91:405-14. 2010
    ..Such analytical techniques could be incorporated into future automated optic disc screening modalities...
  86. doi The heritability of ocular traits
    Paul G Sanfilippo
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Surv Ophthalmol 55:561-83. 2010
    ....
  87. ncbi Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity
    Joanne L Dickinson
    Menzies Research Institute, University of Tasmania, Hobart, Australia
    Clin Experiment Ophthalmol 34:682-8. 2006
    ....
  88. pmc Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy
    Neil Howell
    MitoKor, San Diego, CA 92121, USA
    Am J Hum Genet 72:1460-9. 2003
    ..Finally, analysis of the mtDNA sequences from those pedigrees that did not carry classic LHON mutations suggested candidate pathogenic mutations at nts 9804, 13051, and 14325...
  89. doi Heritability of the iridotrabecular angle width measured by optical coherence tomography in Chinese children: the Guangzhou twin eye study
    Mingguang He
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 49:1356-61. 2008
    ..To estimate the heritability of the iridotrabecular angle width measured by anterior segment optical coherence tomography (ASOCT) in a classic twin study...
  90. doi The heritability of corneal hysteresis and ocular pulse amplitude: a twin study
    Francis Carbonaro
    Twin Research and Genetic Epidemiology Unit, King s College London School of Medicine, London, United Kingdom
    Ophthalmology 115:1545-9. 2008
    ..To examine the roles of genetic and environmental factors in corneal hysteresis and ocular pulse amplitude by performing a classic twin study...
  91. doi Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou Twin Eye Study
    Mingguang He
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 49:81-6. 2008
    ..To assess the heritability of anterior chamber depth (ACD) and relative anterior chamber depth (ACD/axial length, rACD) in Chinese in a classic twin study...
  92. ncbi A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability
    Michael B Petersen
    Department of Genetics, Institute of Child Health, Athens, Greece
    Invest Ophthalmol Vis Sci 47:620-5. 2006
    ..The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3...
  93. ncbi Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations
    Neil Howell
    MitoKor, San Diego, California 92121, USA
    J Neuroophthalmol 22:262-9. 2002
    ..To report the clinical and mitochondrial genetic analyses of two families, each of which carries both the 11778 and 14484 Leber hereditary optic neuropathy (LHON) mutations in mitochondrial DNA...
  94. ncbi Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background
    Neil Howell
    MitoKor, San Diego, California 92121, USA
    Am J Med Genet A 119:147-51. 2003
    ..These results, in conjunction with other studies that are reviewed, indicate that 14484 LHON mutations have a low penetrance when they arise in a haplogroup H mtDNA background...
  95. ncbi No association between variations in the WDR36 gene and primary open-angle glaucoma
    John H Fingert
    Arch Ophthalmol 125:434-6. 2007
  96. ncbi Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
    Wallace L M Alward
    Department of Ophthalmology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    Am J Ophthalmol 136:904-10. 2003
    ..To investigate the association of sequence variations in the optineurin (OPTN) gene in patients with open-angle glaucoma...
  97. ncbi Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations
    Amy C Cohn
    Ocular Diagnostic Clinic, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Am J Ophthalmol 143:656-62. 2007
    ..We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees...
  98. ncbi Central corneal thickness and glaucoma in the Australian Aboriginal population
    David A Mackey
    Clin Experiment Ophthalmol 35:691-2. 2007
  99. ncbi Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene
    Michele M Sale
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, NC, USA
    Hum Mutat 20:322. 2002
    ..It appears that independent modifying factors may underlie the variability of the different phenotypic features of the PAX6 mutation...
  100. pmc Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells
    Charles M Krafchak
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA
    Am J Hum Genet 77:694-708. 2005
    ....
  101. pmc Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom
    Am J Hum Genet 74:721-30. 2004
    ..This finding further underlines the significance of Wnt signaling in the vascularization of the eye and highlights the potential dangers of using multiple families to refine genetic intervals in gene-identification studies...