Kearns-Sayre syndrome: ophthalmic manifestations
Journal: Anales De Pediatria (Barcelona, Spain : 2003)
Published:
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
M Bande Rodriguez, S Pose Bazarra, A Treus Suarez, M Abraldes Lopez Veiga, M Fernandez Rodriguez, M Rodriguez Cid
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