Fundus flavimaculatus-like in myotonic dystrophy: a case report
| العنوان: | Fundus flavimaculatus-like in myotonic dystrophy: a case report |
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| المؤلفون: | Mònica Berges-Marti, Laura Distefano, Eric Kirkegaard-Biosca, José García-Arumí, Brahim Azarfane, Esther Cilveti |
| المساهمون: | 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 |
| المصدر: | BMC Ophthalmology Scientia BMC Ophthalmology, Vol 21, Iss 1, Pp 1-6 (2021) |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Fundus flavimaculatus, medicine.medical_specialty, Retinal Disorder, genetic structures, Myotonic dystrophy, Posterior pole, Vision Disorders, Case Report, Fundus (eye), Retina, Otros calificadores::Otros calificadores::/complicaciones [Otros calificadores], 03 medical and health sciences, 0302 clinical medicine, Ptosis, Ophthalmology, Humans, Stargardt Disease, Medicine, business.industry, Dystrophy, General Medicine, RE1-994, medicine.disease, Myotonia, Pattern dystrophy, eye diseases, enfermedades musculoesqueléticas::enfermedades musculares::trastornos musculares atróficos::distrofias musculares::distrofia miotónica [ENFERMEDADES], Phenotype, medicine.anatomical_structure, Musculoskeletal Diseases::Muscular Diseases::Muscular Disorders, Atrophic::Muscular Dystrophies::Myotonic Dystrophy [DISEASES], Nervous System Diseases::Neurologic Manifestations::Sensation Disorders::Vision Disorders [DISEASES], Distròfia muscular - Complicacions, 030221 ophthalmology & optometry, Female, sense organs, medicine.symptom, business, Degeneració macular, 030217 neurology & neurosurgery, Other subheadings::Other subheadings::/complications [Other subheadings], enfermedades del sistema nervioso::manifestaciones neurológicas::trastornos sensoriales::trastornos de la visión [ENFERMEDADES] |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| تدمد: | 1471-2415 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ea1aef27ecb565331fd013c09a59255Test https://doi.org/10.1186/s12886-021-02002-5Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4ea1aef27ecb565331fd013c09a59255 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14712415 |
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