title: [Kearns-Sayre syndrome: ophthalmic manifestations].
abstract: The clinical case and genetic diagnosis of Kearns-Sayre syndrome (KSS) is described in a young patient. The findings included: ptosis, ocular motility disturbances, pigmentary retinopathy, as well as mitral insufficiency. A muscle biopsy revealed mitochondrial cytopathyand heteroplasmic mitochondrial DNA deletions. KSS is a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. Early detection is essential to avoid potential cardiac complications.
authors.affiliation: Servizo de Oftalmoloxía, Complexo Hospitalario Universitario de Santiago, Universidade de Santiago de Compostela, Santiago de Compostela, España. Electronic address: verman017@gmail.com.
authors.forename: M
authors.initials: M
authors.lastname: Bande Rodriguez
authors.affiliation: Servizo de Oftalmoloxía, Complexo Hospitalario Universitario de Santiago, Universidade de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: S
authors.initials: S
authors.lastname: Pose Bazarra
authors.affiliation: Servizo de Oftalmoloxía, Complexo Hospitalario Universitario de Santiago, Universidade de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: A
authors.initials: A
authors.lastname: Treus Suarez
authors.affiliation: Servizo de Oftalmoloxía, Complexo Hospitalario Universitario de Santiago, Universidade de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: M
authors.initials: M
authors.lastname: Abraldes Lopez-Veiga
authors.affiliation: Servizo de Oftalmoloxía, Complexo Hospitalario Universitario de Santiago, Universidade de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: M I
authors.initials: MI
authors.lastname: Fernandez Rodriguez
authors.affiliation: Servizo de Oftalmoloxía, Complexo Hospitalario Universitario de Santiago, Universidade de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: M J
authors.initials: MJ
authors.lastname: Rodriguez Cid
mesh_terms: D005128:Eye Diseases / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D007625:Kearns-Sayre Syndrome / Q000150:complications / Q000175:diagnosis*
keywords: Citopatía mitocondrial; Kearns-Sayre syndrome; Mitochondrial cytopathy; Pigmentary retinopathy; Retinopatía pigmentaria; Síndrome de Kearns-Sayre