Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorTAKAHASHI, Vitor K. L.
dc.contributor.authorTAKIUTI, Julia T.
dc.contributor.authorJAUREGUI, Ruben
dc.contributor.authorLIMA, Luiz H.
dc.contributor.authorTSANG, Stephen H.
dc.date.accessioned2019-01-17T13:39:13Z
dc.date.available2019-01-17T13:39:13Z
dc.date.issued2018
dc.description.abstractBackground and objective: To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. Patients and methods: Fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT) images were obtained from seven patients with autosomal recessive RP caused by mutations in either PDE6A or PDE6B. Measurements of the EZ line width on SD-OCT images and horizontal, vertical diameter, and ring area on FAF images were performed by two independent graders. The measurements of these four parameters were correlated with one another. Results: We observed that the EZ line width decreased by an average of 91 +/- 64 mu m per year, while the horizontal and vertical diameters decreased by 103 +/- 53 mu m and 92 +/- 49 mu m per year, respectively. The ring area decreased by a rate of 0.3 +/- 0.18 mm(2) per year. Progression rates were similar for the left eye. Conclusions: We observed a progressive loss of EZ line width and Short-wavelength fundus autofluorescence (SW-AF) ring constriction over time. These results may serve as reference for better prognostic prediction and patients selection for clinical trials promoting cone rescue.eng
dc.description.indexMEDLINEeng
dc.description.sponsorshipNational Institute of Health [P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437]
dc.description.sponsorshipNational Cancer Institute Core [5P30CA013696]
dc.description.sponsorshipResearch to Prevent Blindness (RPB) Physician-Scientist Award
dc.description.sponsorshipRPB, New York, NY, USA
dc.description.sponsorshipTistou and Charlotte Kerstan Foundation
dc.description.sponsorshipSchneeweiss Stem Cell Fund, New York State [C029572]
dc.description.sponsorshipFoundation Fighting Blindness New York Regional Research Center Grant [C-NY05-0705-0312]
dc.description.sponsorshipCrowley Family Fund
dc.description.sponsorshipGebroe Family Foundation
dc.identifier.citationOPHTHALMIC GENETICS, v.39, n.5, p.610-614, 2018
dc.identifier.doi10.1080/13816810.2018.1509354
dc.identifier.eissn1744-5094
dc.identifier.issn1381-6810
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/30179
dc.language.isoeng
dc.publisherTAYLOR & FRANCIS INCeng
dc.relation.ispartofOphthalmic Genetics
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright TAYLOR & FRANCIS INCeng
dc.subjectAutosomal recessiveeng
dc.subjectdisease progressioneng
dc.subjectPDE6Aeng
dc.subjectPDE6Beng
dc.subjectretinitis pigmentosaeng
dc.subject.otherfundus autofluorescenceeng
dc.subject.othervitamin-aeng
dc.subject.otherdocosahexaenoic acideng
dc.subject.othersupplementationeng
dc.subject.othermutationeng
dc.subject.othertrialeng
dc.subject.otherrodeng
dc.subject.wosGenetics & Heredityeng
dc.subject.wosOphthalmologyeng
dc.titleStructural disease progression in PDE6-associated autosomal recessive retinitis pigmentosaeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryisous
hcfmusp.author.externalTAKAHASHI, Vitor K. L.:Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Ophthalmol,Jonas Childrens Vis Care, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Ophthalmol,Bernard & Shirlee Brown Glaucoma, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Pathol & Cell Biol,Jonas Childrens Vis Care, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Pathol & Cell Biol,Bernard & Shirlee Brown G, New York, NY 10032 USA; Univ Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, Brazil
hcfmusp.author.externalJAUREGUI, Ruben:Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Ophthalmol,Jonas Childrens Vis Care, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Ophthalmol,Bernard & Shirlee Brown Glaucoma, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Pathol & Cell Biol,Jonas Childrens Vis Care, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Pathol & Cell Biol,Bernard & Shirlee Brown G, New York, NY 10032 USA; Weill Cornell Med Coll, New York, NY USA
hcfmusp.author.externalLIMA, Luiz H.:Univ Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, Brazil
hcfmusp.author.externalTSANG, Stephen H.:Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Ophthalmol,Jonas Childrens Vis Care, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Ophthalmol,Bernard & Shirlee Brown Glaucoma, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Pathol & Cell Biol,Jonas Childrens Vis Care, New York, NY 10032 USA; Columbia Univ, Inst Human Nutr, Columbia Stem Cell Initiat, Dept Pathol & Cell Biol,Bernard & Shirlee Brown G, New York, NY 10032 USA; Columbia Univ, Coll Phys & Surg, Inst Human Nutr, Dept Pathol & Cell Biol,Stem Cell Initiat CSCI, New York, NY 10032 USA
hcfmusp.citation.scopus17
hcfmusp.contributor.author-fmusphcJULIA THIEMI TAKIUTI
hcfmusp.description.beginpage610
hcfmusp.description.endpage614
hcfmusp.description.issue5
hcfmusp.description.volume39
hcfmusp.origemWOS
hcfmusp.origem.pubmed30153077
hcfmusp.origem.scopus2-s2.0-85053281660
hcfmusp.origem.wosWOS:000452051900008
hcfmusp.publisher.cityPHILADELPHIAeng
hcfmusp.publisher.countryUSAeng
hcfmusp.relation.referenceBERSON EL, 1993, ARCH OPHTHALMOL-CHIC, V111, P1456, DOI 10.1001/archopht.1993.01090110014001eng
hcfmusp.relation.referenceBerson EL, 2004, ARCH OPHTHALMOL-CHIC, V122, P1306, DOI 10.1001/archopht.122.9.1306eng
hcfmusp.relation.referenceBERSON EL, 1985, AM J OPHTHALMOL, V99, P240, DOI 10.1016/0002-9394(85)90351-4eng
hcfmusp.relation.referenceBERSON EL, 1993, ARCH OPHTHALMOL-CHIC, V111, P761, DOI 10.1001/archopht.1993.01090060049022eng
hcfmusp.relation.referenceBerson EL, 2007, EXP EYE RES, V85, P7, DOI 10.1016/j.exer.2007.03.001eng
hcfmusp.relation.referenceBirch DG, 1999, OPHTHALMOLOGY, V106, P258, DOI 10.1016/S0161-6420(99)90064-7eng
hcfmusp.relation.referenceBittner AK, 2011, OPTOMETRY VISION SCI, V88, P1496, DOI 10.1097/OPX.0b013e3182348d0beng
hcfmusp.relation.referenceCabral T, 2017, SCI REP-UK, V7, DOI 10.1038/s41598-017-10473-0eng
hcfmusp.relation.referenceCai CX, 2014, INVEST OPHTH VIS SCI, V55, P7417, DOI 10.1167/iovs.14-15013eng
hcfmusp.relation.referenceCote RH, 2004, INT J IMPOT RES, V16, pS28, DOI 10.1038/sj.ijir.3901212eng
hcfmusp.relation.referenceFakin A, 2012, VISION RES, V75, P60, DOI 10.1016/j.visres.2012.08.017eng
hcfmusp.relation.referenceGrover S, 1998, OPHTHALMOLOGY, V105, P1069, DOI 10.1016/S0161-6420(98)96009-2eng
hcfmusp.relation.referenceGrover S, 1997, OPHTHALMOLOGY, V104, P460, DOI 10.1016/S0161-6420(97)30291-7eng
hcfmusp.relation.referenceHamel C, 2006, ORPHANET J RARE DIS, V1, DOI 10.1186/1750-1172-1-40eng
hcfmusp.relation.referenceHan ZC, 2011, INVEST OPHTH VIS SCI, V52, P3051, DOI 10.1167/iovs.10-6916eng
hcfmusp.relation.referenceHartong DT, 2006, LANCET, V368, P1795, DOI 10.1016/S0140-6736(06)69740-7eng
hcfmusp.relation.referenceHo AC, 2015, OPHTHALMOLOGY, V122, P1547, DOI 10.1016/j.ophtha.2015.04.032eng
hcfmusp.relation.referenceHoffman DR, 2004, AM J OPHTHALMOL, V137, P704, DOI 10.1016/j.ajo.2003.10.045eng
hcfmusp.relation.referenceHood DC, 2011, BIOMED OPT EXPRESS, V2, P1097, DOI 10.1364/BOE.2.001097eng
hcfmusp.relation.referenceJauregui R, 2018, ASIA-PAC J OPHTHALMO, V7, P183, DOI 10.22608/APO.201851eng
hcfmusp.relation.referenceMADREPERLA SA, 1990, ARCH OPHTHALMOL-CHIC, V108, P358, DOI 10.1001/archopht.1990.01070050056030eng
hcfmusp.relation.referenceRangaswamy NV, 2010, INVEST OPHTH VIS SCI, V51, P4213, DOI 10.1167/iovs.09-4945eng
hcfmusp.relation.referenceRobson AG, 2012, INVEST OPHTH VIS SCI, V53, P6187, DOI 10.1167/iovs.12-10195eng
hcfmusp.relation.referenceSchuerch K, 2017, INVEST OPHTH VIS SCI, V58, P1843, DOI 10.1167/iovs.16-21302eng
hcfmusp.relation.referenceSeiple W, 2004, DOC OPHTHALMOL, V109, P255, DOI 10.1007/s10633-005-0567-0eng
hcfmusp.relation.referenceShen S, 2014, OPHTHALMIC GENET, V35, P142, DOI 10.3109/13816810.2014.915328eng
hcfmusp.relation.referenceSujirakul T, 2015, AM J OPHTHALMOL, V160, P786, DOI 10.1016/j.ajo.2015.06.032eng
hcfmusp.relation.referenceTsang SH, 2008, AM J OPHTHALMOL, V146, P780, DOI 10.1016/j.ajo.2008.06.017eng
hcfmusp.relation.referenceWakabayashi T, 2010, ACTA OPHTHALMOL, V88, pE177, DOI 10.1111/j.1755-3768.2010.01926.xeng
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