Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients

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dc.citation.volume7
dc.contributor.authorSengillo, Jesse D.
dc.contributor.authorCabral, Thiago [UNIFESP]
dc.contributor.authorSchuerch, Kaspar
dc.contributor.authorDuong, Jimmy
dc.contributor.authorLee, Winston
dc.contributor.authorBoudreault, Katherine
dc.contributor.authorXu, Yu
dc.contributor.authorJustus, Sally
dc.contributor.authorSparrow, Janet R.
dc.contributor.authorMahajan, Vinit B.
dc.contributor.authorTsang, Stephen H.
dc.coverageLondon
dc.date.accessioned2020-08-04T13:40:12Z
dc.date.available2020-08-04T13:40:12Z
dc.date.issued2017
dc.description.abstractUsher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene-and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function. There was a tendency for Usher syndrome patients to have a higher distribution of severe mutations, and alleles in this group had a higher odds of containing nonsense or frame-shift mutations. These data suggest that the previously reported severe visual phenotype seen in syndromic USH2A patients could relate to a greater extent of cone dysfunction. Additionally, a genetic threshold may exist where mutation burden relates to visual phenotype and the presence of hearing deficits. The auditory phenotype and allelic hierarchy observed among patients should be considered in prospective studies of disease progression and during enrollment for future clinical trials.en
dc.description.affiliationColumbia Univ, Dept Ophthalmol, Med Ctr, Jonas Childrens Vis Care, New York, NY 10027 USA
dc.description.affiliationColumbia Univ, Dept Ophthalmol, Med Ctr, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10027 USA
dc.description.affiliationNew York Presbyterian Hosp, Edward S Harkness Eye Inst, New York, NY 10034 USA
dc.description.affiliationSuny Downstate Med Ctr, Brooklyn, NY 11203 USA
dc.description.affiliationUniv Fed Espirito Santo, Dept Ophthalmol, Vitoria, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, Brazil
dc.description.affiliationColumbia Univ, Dept Biostat, New York, NY USA
dc.description.affiliationUniv Montreal, Dept Ophthalmol, Montreal, PQ, Canada
dc.description.affiliationShanghai Jiao Tong Univ, Sch Med, Xin Hua Hosp, Dept Ophthalmol, Shanghai, Peoples R China
dc.description.affiliationColumbia Univ, Inst Human Nutr, Dept Pathol & Cell Biol, Stem Cell Initiat CSCI,Coll Phys & Surg, New York, NY 10032 USA
dc.description.affiliationStanford Univ, Dept Ophthalmol, Om Lab, Byers Eye Inst, Palo Alto, CA 94304 USA
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipNational Institute of Health
dc.description.sponsorshipNational Cancer Institute
dc.description.sponsorshipResearch to Prevent Blindness (RPB)
dc.description.sponsorshipRPB, New York, NY, USA
dc.description.sponsorshipRPB
dc.description.sponsorshipInternational Council of Ophthalmology - Retina Research Foundation
dc.description.sponsorshipNIH
dc.description.sponsorshipTistou and Charlotte Kerstan Foundation
dc.description.sponsorshipSchneeweiss Stem Cell Fund, New York State
dc.description.sponsorshipFoundation Fighting Blindness New York Regional Research Center
dc.description.sponsorshipCrowley Family Fund
dc.description.sponsorshipGebroe Family Foundation
dc.format.extent-
dc.identifierhttp://dx.doi.org/10.1038/s41598-017-11679-y
dc.identifier.citationScientific Reports. London, v. 7, p. -, 2017.
dc.identifier.doi10.1038/s41598-017-11679-y
dc.identifier.fileWOS000410064000006.pdf
dc.identifier.issn2045-2322
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/57365
dc.identifier.wosWOS:000410064000006
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofScientific Reports
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleElectroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patientsen
dc.typeinfo:eu-repo/semantics/article
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