Kearns-Sayre syndrome: a case report and review.
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.
Gross-Jendroska
M
M
Free University of Berlin, Germany.
Schatz
H
H
McDonald
H R
HR
Johnson
R N
RN
D000328:Adult; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000473:pathology*; D008297:Male