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oai:recercat.cat:11351/70612025-10-24T10:17:55Zcom_2072_378070com_2072_378040col_2072_378092

Fundus flavimaculatus-like in myotonic dystrophy: a case report Berges Marti, Mònica Azarfane, Brahim Cilveti Gomez, Esther Distefano, Laura Natalia García Arumí, José Kirkegaard Biosca, Eric Institut Català de la Salut [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 Vall d'Hebron Barcelona Hospital Campus Distròfia muscular - Complicacions Degeneració macular DISEASES::Musculoskeletal Diseases::Muscular Diseases::Muscular Disorders, Atrophic::Muscular Dystrophies::Myotonic Dystrophy Other subheadings::Other subheadings::Other subheadings::/complications DISEASES::Nervous System Diseases::Neurologic Manifestations::Sensation Disorders::Vision Disorders ENFERMEDADES::enfermedades musculoesqueléticas::enfermedades musculares::trastornos musculares atróficos::distrofias musculares::distrofia miotónica Otros calificadores::Otros calificadores::Otros calificadores::/complicaciones ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::trastornos sensoriales::trastornos de la visión Informe d'un cas; Fundus flavimaculatus; Distròfia miotònica Reporte de un caso; Fundus flavimaculatus; Distrofia miotónica Case report; Fundus flavimaculatus; Myotonic dystrophy Background 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. 2022-02-22T09:36:39Z 2022-02-22T09:36:39Z 2021-05-29 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Kirkegaard-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. 1471-2415 https://hdl.handle.net/11351/7061 10.1186/s12886-021-02002-5 34051736 000655972100001 http://hdl.handle.net/11351/7061 eng BMC Ophthalmology;21 https://doi.org/10.1186/s12886-021-02002-5 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess application/pdf BMC Scientia