Eric Kirkegaard-Biosca1, Mònica Berges-Marti2, Brahim Azarfane2, Esther Cilveti2,3, Laura Distefano2, Jose García-Arumí2,4. 1. Ophthalmology Department, Vall d'Hebron Hospital, Barcelona, Spain. kirkegaard.biosca@gmail.com. 2. Ophthalmology Department, Vall d'Hebron Hospital, Barcelona, Spain. 3. Ophthalmology Department, Moises Broggi Hospital, Barcelona, Spain. 4. Department of Retina and Vitreous, Instituto de Microcirugía Ocular (IMO), Barcelona, Spain.
Abstract
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.
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.
Entities:
Keywords:
Case report; Fundus flavimaculatus; Myotonic dystrophy; Pattern dystrophy
Authors: Janneke J C van Lith-Verhoeven; Frans P M Cremers; Bellinda van den Helm; Carel B Hoyng; August F Deutman Journal: Mol Vis Date: 2003-04-24 Impact factor: 2.367