title: Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions.
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.
authors.affiliation: Department of Ophthalmology, 'Lozano Blesa' University Clinic Hospital, Zaragoza, Spain. jascaso@gmail.com
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Ascaso
authors.forename: Ester
authors.initials: E
authors.lastname: Lopez-Gallardo
authors.forename: Eduardo
authors.initials: E
authors.lastname: Del Prado
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ruiz-Pesini
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
mesh_terms: D001284:Atrophy; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis / Q000235:genetics*; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000473:pathology; D055213:Retinal Pigment Epithelium / Q000473:pathology; D017384:Sequence Deletion; D041623:Tomography, Optical Coherence
chemical_list: D004272:DNA, Mitochondrial