HARVARD MEDICAL SCHOOL
DEPARTMENT OF NEUROLOGY
MASSACHUSETTS GENERAL HOSPITAL
Progressive External
Ophthalmoplegia
Shirley H. Wray, M.D., Ph.D.
Professor of Neurology, Harvard Medical School
Director, Unit for Neurovisual Disorders
Massachusetts General Hospital
Figure 1. Fundus OD atypical retinitis pigmentosa.
Figure 2. Fundus OS atypical retinitis pigmentosa.
Figure 3. Fundus peripheral retina atypical retinitis pigmentosa.
Figure 4. Retinal atrophy
Figure 5. Skeletal muscle ragged red fibers (Hemotoxylim eosin)
Figure 6. Skeletal muscle ragged red fibers (Gomori trichrome)
Figure 7. Skeletal muscle ragged red fibers (NADH)
Figure 8. Skeletal muscle electronmicroscopy in KSS
Table 1. Mitrochondrial myopathy: clinical features
Table 2. Mitrochondrial myopathy: MR findings
Figure 9. A 61-year old woman (patient 1) with KSS, moderately severe truncal
and appendicular ataxia, and a documented mtDNA deletion. A T1-weighted
sagittal image demonstrates severe cerebellar vermian atrophy (arrow)
Figure 10. A 23-year old man (patient 2) with KSS, cognitive impairment, ataxia
and an mtDNA deletion.
A. T2 weighted image demonstrates regions of hyperintense signal (arrows) in
the subcortical white matter. The periventricular regions were spared.
B. T2-weighted image shows foci of hyperintense signal (arrows) in the dorsal
midbrain.
Figure 11. A 37-year old woman (patient B) with CPEO manifested by external
ophthalmoplegia, ataxia, and sensorineural hearing loss.
A. Long-repetition-time/short-echo-time (proton density) axial image. In the frontal
lobes, abnormal hyperintense signal predominates in the subcortical white matter
(arrows), whereas in the posterior temporal and parietal lobes the abnormal signal
extended from the subcortical regions to the ventricular surface (curved arrows).
B. T2-weighted axial MR image demonstrates bilateral hyperintense signal
abnormalities in the globus pallidus (arrows). Hyperintense white matter
abnormalities and ventricular dilation are also present.
C. T1-weighted sagittal image demonstrates cerebral cortical and cerebellar vermian
atrophy (arrow) and thinning of the corpus callosum.
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