Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion.
BACKGROUND
Mitochondrial DNA (mtDNA) deletions have been reported in types of mitochondrial myopathy, including Kearns-Sayre syndrome (KSS). We examined mtDNA, skeletal muscle findings, and retinal electrophysiologic function in a patient believed to have incomplete KSS with ptosis and characteristic (so called salt and pepper) retinopathy, but without limitation of ocular motility and without other involvement of the central or peripheral nervous system.


METHODS
Muscle biopsy specimens were examined by Gomori trichrome stain and electron microscopy. DNA extracted from muscle was examined by Southern blot analysis. Deleted mtDNA was sequenced by direct sequencing with polymerase chain reaction (PCR). Electroretinograms (ERG) and electrooculograms (EOG) were performed for electrophysiologic examination of the retina.


RESULTS
There were no ragged red fibers in skeletal muscle specimens, although abnormal aggregation of mitochondria was observed on electron microscopic examination. An mtDNA deletion was detected. It spanned 5266-bp between the tRNASer gene and the ND5 gene. Electroretinographic and electrooculographic findings were normal, although extensive involvement of retinal pigment epithelium was observed on ophthalmoscopic examination.


CONCLUSIONS
Detecting mtDNA deletion is more critical in diagnosing an incomplete phenotype of mitochondrial myopathy than is morphologic examination. We found that ophthalmoscopic fundus abnormalities preceded abnormalities on ERG and EOG.
Department of Ophthalmology, Faculty of Medicine, University of Nagoya, Japan.
Y
Y
Ota
Y
Y
Miyake
S
S
Awaya
T
T
Kumagai
M
M
Tanaka
T
T
Ozawa
D001483:Base Sequence; D001706:Biopsy; D002648:Child; D004272:DNA, Mitochondrial / Q000032:analysis*; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D017353:Gene Deletion; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000648:ultrastructure; D012160:Retina / Q000473:pathology* / Q000503:physiopathology; D012164:Retinal Diseases / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology
D004272:DNA, Mitochondrial