Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions

Authors

  • Francisco J Ascaso MD PhD,

    Corresponding author
    1. Department of Ophthalmology, ‘Lozano Blesa’ University Clinic Hospital
    2. Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain
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  • Ester Lopez-Gallardo PhD,

    1. Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, CIBER de Enfermedades Raras
    2. Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain
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  • Eduardo Del Prado PhD,

    1. Department of Ophthalmology, ‘Lozano Blesa’ University Clinic Hospital
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  • Eduardo Ruiz-Pesini PhD,

    1. Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, CIBER de Enfermedades Raras
    2. Fundación Aragón I+D
    3. Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain
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  • Julio Montoya PhD

    1. Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, CIBER de Enfermedades Raras
    2. Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain
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Professor Francisco J Ascaso, Department of Ophthalmology, ‘Lozano Blesa’ University Clinic Hospital, San Juan Bosco 15, ES-50009 Zaragoza, Spain. Email: jascaso@gmail.com

Abstract

We present the case of a 48-year-old woman with a clinically and histopathologically confirmed Kearns–Sayre syndrome who developed a maculopathy resembling an adult-onset vitelliform macular dystrophy in her right eye. DNA analysis identified the presence of multiple deletions in the mtDNA of the muscle sample, with the common deletion of 4977 bp the most abundant. To the best of our knowledge, there have been no previous reports of such macular lesion occurring in association with Kearns–Sayre syndrome.

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