[Kearns-Sayre syndrome].
The authors describe a rare group of symptoms, resulting in progressive external ophthalmoplegia, retinal pigment epithelial dysfunction and cardiac conduction disturbance. The illness belongs to the group of mitochondrial cytopathies. The case extends over the diagnostic possibilities, with special attention on electromyographic diagnostic, clinical symptoms, pathomechanism of the disease, and the therapic possibilities.
Hertelendy
A
A
Fövárosi Onkormányzat Szent János Kórház, Szemészeti Osztály.
Szigeti
Z
Z
Reichard
L
L
Marek
P
P
Sápi
Z
Z
D000368:Aged; D001763:Blepharoptosis / Q000601:surgery; D004576:Electromyography; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery; D008297:Male; D009886:Ophthalmoplegia / Q000601:surgery