Variation in retinal changes and muscle pathology in mitochondriopathies.
A variety of retinal changes that have so far not been classified under mitochondriopathies can now be included in this group, since muscle biopsy has identified ragged-red fibers with pathological mitochondriae. The ophthalmological findings in our relatively large group of 12 patients with mitochondrial myopathies are compared with the spectrum of myopathic findings. No obvious correlation exists between the severity of the pathological retinal changes and the characteristic of the myopathic alterations. In addition to fine pigmentation and depigmentation, severe dystrophic changes of the retina, pigment epithelium, and the choroid were observed. In two patients with severe chorioretinal dystrophy the correlation with generalized mitochondriopathy was not suspected prior to muscle biopsy.
Bosche
J
J
Augenklinik, Düsseldorf, Federal Republic of Germany.
Hammerstein
W
W
Neuen-Jacob
E
E
Schober
R
R
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D004562:Electrocardiography; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle; D009132:Muscles / Q000648:ultrastructure*; D009886:Ophthalmoplegia / Q000473:pathology* / Q000503:physiopathology; D012160:Retina / Q000503:physiopathology / Q000648:ultrastructure*