[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.

Keywords: Citopatía mitocondrial; Kearns-Sayre syndrome; Mitochondrial cytopathy; Pigmentary retinopathy; Retinopatía pigmentaria; Síndrome de Kearns-Sayre.