[Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy].
BACKGROUND
The main symptom of chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) are upper eyelid ptosis and a slowly progressive weakness of the extraocular muscles. Mitochondrial disorders are much more frequent than previously assumed. Because of great phenotypic variability, early diagnosis may prove to be difficult.


METHODS
Retrospective analysis of 30 patients with CPEO or KSS with regard to ophthalmological and neurological findings as well as molecular genetic background.


RESULTS
Twenty-seven patients presented with upper eyelid ptosis as the first clinical symptom. In 11 of these patients, ptosis was either unilateral or asymmetric. External ophthalmoplegia was present in only three patients initially; however, it developed in 27 patients in the later course of the disease. Diplopia was found to be more frequent than previously assumed. Twenty-six patients showed characteristic histological hallmarks in skeletal muscle biopsy. In 22 patients, molecular genetic testing revealed mitochondrial DNA mutations.


CONCLUSIONS
Mitochondrial disorders should be included in the early differential diagnosis of patients with etiologically unclear acquired isolated unilateral or bilateral ptosis, atypical eye movement disorders, or diplopia. A correct diagnosis is mandatory for qualified counseling and the management of potentially life-threatening complications, such as cardiac involvement.
Wabbels
B
B
Universitäts-Augenklinik, Abbestrasse 2, 53127, Bonn, Deutschland. bettina.wabbels@ukb.uni-bonn.de
Ali
N
N
Kunz
W S
WS
Roggenkämper
P
P
Kornblum
C
C
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001763:Blepharoptosis / Q000209:etiology; D002648:Child; D002872:Chromosome Deletion; D003131:Combined Modality Therapy; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D006310:Hearing Aids; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D010138:Pacemaker, Artificial; D010348:Patient Care Team; D017354:Point Mutation / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D012189:Retrospective Studies; D014451:Ubiquinone / Q000627:therapeutic use
D004272:DNA, Mitochondrial; D014451:Ubiquinone