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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorKirkegaard Biosca, Eric
dc.contributor.authorBerges Marti, Mònica
dc.contributor.authorAzarfane, Brahim
dc.contributor.authorCilveti Gomez, Esther
dc.contributor.authorDistefano, Laura Natalia
dc.contributor.authorGarcía Arumí, José
dc.date.accessioned2022-02-22T09:36:39Z
dc.date.available2022-02-22T09:36:39Z
dc.date.issued2021-05-29
dc.identifier.citationKirkegaard-Biosca E, Berges-Marti M, Azarfane B, Cilveti E, Distefano L, García-Arumí J. Fundus flavimaculatus-like in myotonic dystrophy: a case report. BMC Ophthalmol. 2021 May 29;21:240.
dc.identifier.issn1471-2415
dc.identifier.urihttp://hdl.handle.net/11351/7061
dc.descriptionCase report; Fundus flavimaculatus; Myotonic dystrophy
dc.description.abstractBackground Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye. Dysfunction of ocular muscles, ptosis and cataract are the most common ophthalmologic manifestations, but it can also present with pigmentary changes in the retina. This report presents and discusses an unusual case of a pigmented pattern dystrophy simulating a fundus flavimaculatus in a patient with myotonic dystrophy. Case presentation We present a case of a woman with a history of myotonic dystrophy and complaints of progressive vision loss who presented bilateral retinal pigmentary changes in posterior pole and midperiphery. The characteristics and distribution of pigmented deposits, as well as ancillary tests, showed a retinal phenotype compatible with a multifocal pattern dystrophy or a fundus flavimaculatus. Conclusions There are a few publications about retinal disorders in patients with myotonic dystrophy. When macular area is affected it tends to adopt a patterned-shape defined as butterfly dystrophy or reticular dystrophy. To our knowledge, this is the first report of a patient with myotonic dystrophy and multifocal pattern dystrophy or fundus flavimaculatus.
dc.language.isoeng
dc.publisherBMC
dc.relation.ispartofseriesBMC Ophthalmology;21
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectDistròfia muscular - Complicacions
dc.subjectDegeneració macular
dc.subject.meshMyotonic Dystrophy
dc.subject.mesh/complications
dc.subject.meshVision Disorders
dc.titleFundus flavimaculatus-like in myotonic dystrophy: a case report
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s12886-021-02002-5
dc.subject.decsdistrofia miotónica
dc.subject.decs/complicaciones
dc.subject.decstrastornos de la visión
dc.relation.publishversionhttps://doi.org/10.1186/s12886-021-02002-5
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Kirkegaard-Biosca E, Berges-Marti M, Azarfane B, Distefano L] Servei d’Oftalmologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Cilveti E] Servei d’Oftalmologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Ophthalmology Department, Moises Broggi Hospital, Barcelona, Spain. [García-Arumí J] Servei d’Oftalmologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Department of Retina and Vitreous, Instituto de Microcirugía Ocular (IMO), Barcelona, Spain
dc.identifier.pmid34051736
dc.identifier.wos000655972100001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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