title: Kearns-Sayre syndrome: a case report and review.
abstract: In 1958, Kearns and Sayre described a multisystem entity, now known as Kearns-Sayre syndrome (KSS). The syndrome is defined as exhibiting a triad of thus far unexplained degenerative conditions: progressive external ophthalmoplegia, retinal pigmentary degeneration, and heart block. Commonly accompanying findings include cerebellar dysfunction and CSF protein levels above 100 mg/dl. Symptoms usually appear in early childhood, but the onset has been seen occasionally in young adults. KSS is a mitochondrial disorder that occurs rarely; the actual incidence is unknown. Ocular findings consist of bilateral ptosis, chronic progressive external ophthalmoplegia, and pigmentary retinopathy. Corneal clouding and optic neuritis are infrequent. We herein report a classic case of Kearns Sayre syndrome and discuss the findings.
authors.affiliation: Free University of Berlin, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Gross-Jendroska
authors.forename: H
authors.initials: H
authors.lastname: Schatz
authors.forename: H R
authors.initials: HR
authors.lastname: McDonald
authors.forename: R N
authors.initials: RN
authors.lastname: Johnson
mesh_terms: D000328:Adult; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000473:pathology*; D008297:Male