1113 - Ophthalmology and Optometry
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This collection contains Flinders' research in Ophthalmology and Optometry, as reported for ERA 2012.
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Item Automated volumetric evaluation of stereoscopic disc photography(2010) Schuman, Joel; Xu, Juan; Ishikawa, Hiroshi; Wollstein, Gadi; Bilonick, Richard A; Kagemann, Larry E; Craig, Jamie E; Mackey, David A; Hewitt, Alex WItem Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma(2010) Jonasdottir, Adalbjorg; Gudjonsson, Sigurjon; Aldred, Michaela A; Mitchell, Paul; St Clair, David; Collier, David A; Sveinsson, Orn; Tang, Nelson; MacGregor, Stuart; Martin, Nicholas G; Cree, Angela J; Gibson, Jane; Macleod, Alex; Jacob, Aby; Ennis, Sarah; Young, Terri L; Chan, Juliana C N; Karwatowski, Wojciech S S; Hammond, Christopher J; Thordarson, Kristjan; Zhang, Mingzhi; Wadelius, Claes; Lotery, Andrew J; Trembath, Richard C; Pang, Chi Pui; Hoh, Josephine; Craig, Jamie E; Kong, Augustine; Mackey, David A; Jonasson, Fridbert; Thorsteinsdottir, Unnur; Stefansson, Kari; Masson, Gisli; Helgason, A; DeWan, A; Sigurdsson, A; Magnusson, K P; Stefansson, H; Lam, D S; Tam, P O; Gudmundsdottir, G J; Thorleifsson, G; Walters, G B; Hewitt, Alex W; Southgate, L; Burdon, Kathryn Penelope; Gottfredsdottir, M SItem Clinical characteristics and outcome of current standard management of central retinal artery occlusion(2010) Aldrich, Eric M; Miller, Neil R; Chen, Celia Shin Wen; Rudkin, Adam K; Lee, AndrewItem Remediating serious flaws in the national Eye Instittue-Visual Function Questionnaire(2010) Pesudovs, Konrad; Gothwal, Vijaya; Wright, Thomas; Lamoureux, Ecosse LItem Ocular neovascularization following central retinal artery occlusion: prevalence and timing of onset(2010) Rudkin, Adam K; Lee, Andrew; Chen, Celia Shin WenItem Tag SNPs detect association of teh CYP1B1 gene with primary open angle glaucoma(2010) Burdon, Kathryn Penelope; Hewitt, Alex W; Mackey, David A; Craig, Jamie E; Mitchell, PaulItem Development of the 25-item Cardiff Visual Ability Questionnaire for Children (CVAQC)(2010) Khadka, Jyoti; Court, Helen; Ryan, Barbara; Margrain, Tom; Woodhouse, Margaret JItem A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian aboriginal family maps to 1p35.3-p36.32(2010) Hattersely, Kathryn; Laurie, Kate; Leibelt, J E; Gezc, J; Durkin, Shane; Craig, Jamie E; Burdon, Kathryn PenelopeBackground A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family. Methods Genome-wide linkage analysis using Single Nucleotide Polymorphism (SNP) markers on the Affymetrix 10K SNP array was conducted and analysed using MERLIN. Three positional candidate genes (ZBTB17, EPHA2 and EPHB2) were sequenced to screen for segregating mutations. Results Under a fully penetrant, dominant model, the locus for this unique phenotype was mapped to chromosome 1p35.3-p36.32 with a maximum LOD score of 2.41. The critical region spans 48.7 cM between markers rs966321 and rs1441834 and encompasses 527 transcripts from 364 annotated genes. No coding mutations were identified in three positional candidate genes EPHA2, EPHB2 or ZBTB17. The region overlaps with a previously reported region for Volkmann cataract and the phenotype has similarity to that reported for 1p36 monosomy. Conclusions The gene for this syndrome is located in a 25.6 Mb region on 1p35.3-p36.32. The known cataract gene in this region (EPHA2) does not harbour mutations in this family, suggesting that at least one additional gene for cataract is present in this region.Item The development of an instrument to measure quality of vision; the Quality of Vision (QoV) questionnaire(2010) Pesudovs, Konrad; Moore, Jonathan E; McAlinden, ColmItem The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ration, and central corneal thickness(2010) Dyer, Thomas D; Diego, Victor; Samples, John R; Craig, Jamie E; Mackey, David A; Hewitt, Alex W; Blangero, John; Wirtz, Mary K; Charlesworth, Jac C; Kramer, Patricia LItem Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness(2010) Dimasi, David Paul; Burdon, Kathryn Penelope; Hewitt, Alex W; Craig, Jamie E; Savarirayan, Ravi; Healey, Paul R; Mitchell, Paul; Mackey, David AItem Measuring the outcomes of cataract surgery with the Visual Function Index - 14 (VF-14)(2010) Gothwal, Vijaya; Wright, Thomas; Lamoureux, Ecosse L; Pesudovs, KonradItem Quality of Life after Laser Surgery for Eye Disorders(Springer, 2010) Pesudovs, Konrad; Elliott, David BItem Assessment of Visual Performance in Keratoconus(SLACK Incorporated, 2010) Pesudovs, KonradItem Visual disability assessment: valid measurement of activity limitation and mobility in cataract patients(2010) Pesudovs, Konrad; Wright, Thomas; Gothwal, VijayaItem McMonnies questionnaire: enhancing screening for dry eye syndromes with Rasch analysis(2010) Gothwal, Vijaya; Pesudovs, Konrad; Wright, Thomas; Mcmonnies, Charles WItem The refractive status vision profile: Rasch analysis of subscale validity(2010) Gothwal, Vijaya; Wright, Thomas; Elliott, David B; Pesudovs, KonradItem The genetics of central corneal thickness(2010) Dimasi, David Paul; Burdon, Kathryn Penelope; Craig, Jamie EItem Mortality in primary open-angle glaucoma: 'two cupped discs and a funeral'.(2010) Hewitt, Alex W; Sanfilippo, Paul Gerard; Ring, Maree A; Mackey, David A; Craig, Jamie EItem Bilateral occipital lobe infarction with altitudinal field loss following radio frequency cardiac catheter ablation(2010) Luu, Susie T; Lee, Andrew; Chen, Celia Shin WenBackground : Bilateral stroke following radiofrequency catheter ablation is an unusual complication and may result in bilateral altitudinal visual field defects. Bilateral altitudinal visual field defects usually result from prechiasmal pathology causing damage to both retinas or optic nerves and rarely from bilateral symmetric damage to the post chiasmal visual pathways. Case presentation : A 48-year-old man complained of visual disturbance on wakening following radiofrequency catheter ablation. The patient had a CHADS score of 1 pre-operatively and no complications were noted intra-operatively. Examination revealed a bilateral superior altitudinal defect and MRI of the brain showed multifocal areas of infarction predominantly involving the occipital lobes which correlated to with the visual deficits. Conclusion : While the risk of thromboembolism and perioperative stroke during radiofrequency catheter ablation is small, it is not insignificant.