Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000935238> ?p ?o ?g. }
- W2000935238 endingPage "2816" @default.
- W2000935238 startingPage "2816" @default.
- W2000935238 abstract "purpose. To investigate the clinical features of subjects with glaucoma with the E50K mutation in the optineurin (OPTN) gene and to compare the onset, severity, and clinical course of these patients with a control group of subjects with glaucoma without this mutation. methods. The phenotype of well-characterized subjects from Moorfields Eye Hospital, London, who had been identified as carrying the OPTN E50K mutation was examined. A wide range of structural, psychophysical, and demographic factors were then compared with those in a control group of subjects with glaucoma without this mutation. results. Eleven subjects with glaucoma with the E50K mutation (nine in two families and two sporadic cases) were studied. All 11 subjects had normal tension glaucoma (NTG), with presenting and highest IOP of 15.3 ± 3.0 and 16.5 ± 2.5 mm Hg (±SD) on diurnal testing. Compared with 87 NTG control subjects who did not have this mutation, subjects with E50K presented at a younger age (40.8 ± 15 years, P = 0.0001) and had more advanced optic disc cupping (mean cup-disc ratio ± SD 0.86 ± 0.1, P = 0.001) and smaller neuroretinal rim area (±SD; 0.5 ± 0.28 mm2, P = 0.001) at diagnosis. The rate of filtration surgery performed for progressive visual field loss in those with and without the E50K mutation was 72.7% and 25.3%, respectively (P = 0.003), and all subjects with E50K were found to have progressing visual fields. In addition, seven E50K mutation-carrying individuals in two families (age range, 23–58 years) presented with normal optic discs and visual fields and, as yet, no signs of glaucoma. conclusions. In this study, subjects with glaucoma who had the OPTN E50K mutation were found to have NTG that appeared to be more severe than that in a control group of subjects with NTG without this mutation. The findings emphasize the importance of early detection and treatment of glaucoma in such individuals, to minimize visual loss." @default.
- W2000935238 created "2016-06-24" @default.
- W2000935238 creator A5011781921 @default.
- W2000935238 creator A5014435067 @default.
- W2000935238 creator A5014484265 @default.
- W2000935238 creator A5022464374 @default.
- W2000935238 creator A5036033001 @default.
- W2000935238 creator A5043640338 @default.
- W2000935238 creator A5054704612 @default.
- W2000935238 creator A5069283728 @default.
- W2000935238 creator A5079464717 @default.
- W2000935238 creator A5087118120 @default.
- W2000935238 date "2005-08-01" @default.
- W2000935238 modified "2023-09-26" @default.
- W2000935238 title "Clinical Features and Course of Patients with Glaucoma with the E50K Mutation in the Optineurin Gene" @default.
- W2000935238 cites W1831941353 @default.
- W2000935238 cites W1948155206 @default.
- W2000935238 cites W1971307050 @default.
- W2000935238 cites W1971485090 @default.
- W2000935238 cites W1975088893 @default.
- W2000935238 cites W1988156393 @default.
- W2000935238 cites W1989399186 @default.
- W2000935238 cites W1990245848 @default.
- W2000935238 cites W1995006312 @default.
- W2000935238 cites W2003690861 @default.
- W2000935238 cites W2011051456 @default.
- W2000935238 cites W2016063426 @default.
- W2000935238 cites W2020819672 @default.
- W2000935238 cites W2024250984 @default.
- W2000935238 cites W2030820499 @default.
- W2000935238 cites W2035107735 @default.
- W2000935238 cites W2053212314 @default.
- W2000935238 cites W2060621059 @default.
- W2000935238 cites W2060819029 @default.
- W2000935238 cites W2078761720 @default.
- W2000935238 cites W2079232047 @default.
- W2000935238 cites W2089291688 @default.
- W2000935238 cites W2092673095 @default.
- W2000935238 cites W2097671029 @default.
- W2000935238 cites W2100159037 @default.
- W2000935238 cites W2100556262 @default.
- W2000935238 cites W2101199309 @default.
- W2000935238 cites W2102918391 @default.
- W2000935238 cites W2110590643 @default.
- W2000935238 cites W2112786757 @default.
- W2000935238 cites W2116680353 @default.
- W2000935238 cites W2133008026 @default.
- W2000935238 cites W2135185268 @default.
- W2000935238 cites W2143334732 @default.
- W2000935238 cites W2147936255 @default.
- W2000935238 cites W2150644839 @default.
- W2000935238 cites W2154886355 @default.
- W2000935238 cites W2158230021 @default.
- W2000935238 cites W2158532468 @default.
- W2000935238 cites W2161968833 @default.
- W2000935238 cites W2167071834 @default.
- W2000935238 cites W2588288349 @default.
- W2000935238 cites W2625521663 @default.
- W2000935238 cites W2977587116 @default.
- W2000935238 cites W2071845131 @default.
- W2000935238 doi "https://doi.org/10.1167/iovs.04-1133" @default.
- W2000935238 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16043855" @default.
- W2000935238 hasPublicationYear "2005" @default.
- W2000935238 type Work @default.
- W2000935238 sameAs 2000935238 @default.
- W2000935238 citedByCount "120" @default.
- W2000935238 countsByYear W20009352382012 @default.
- W2000935238 countsByYear W20009352382013 @default.
- W2000935238 countsByYear W20009352382014 @default.
- W2000935238 countsByYear W20009352382015 @default.
- W2000935238 countsByYear W20009352382016 @default.
- W2000935238 countsByYear W20009352382017 @default.
- W2000935238 countsByYear W20009352382018 @default.
- W2000935238 countsByYear W20009352382019 @default.
- W2000935238 countsByYear W20009352382020 @default.
- W2000935238 countsByYear W20009352382021 @default.
- W2000935238 countsByYear W20009352382022 @default.
- W2000935238 countsByYear W20009352382023 @default.
- W2000935238 crossrefType "journal-article" @default.
- W2000935238 hasAuthorship W2000935238A5011781921 @default.
- W2000935238 hasAuthorship W2000935238A5014435067 @default.
- W2000935238 hasAuthorship W2000935238A5014484265 @default.
- W2000935238 hasAuthorship W2000935238A5022464374 @default.
- W2000935238 hasAuthorship W2000935238A5036033001 @default.
- W2000935238 hasAuthorship W2000935238A5043640338 @default.
- W2000935238 hasAuthorship W2000935238A5054704612 @default.
- W2000935238 hasAuthorship W2000935238A5069283728 @default.
- W2000935238 hasAuthorship W2000935238A5079464717 @default.
- W2000935238 hasAuthorship W2000935238A5087118120 @default.
- W2000935238 hasBestOaLocation W20009352381 @default.
- W2000935238 hasConcept C104317684 @default.
- W2000935238 hasConcept C118487528 @default.
- W2000935238 hasConcept C126322002 @default.
- W2000935238 hasConcept C2776058522 @default.
- W2000935238 hasConcept C2777801377 @default.
- W2000935238 hasConcept C2778527774 @default.
- W2000935238 hasConcept C2994225774 @default.
- W2000935238 hasConcept C501734568 @default.