Table 1.
Demographic, clinical and magnetic resonance imaging findings in patients with chronic progressive external ophthalmoplegia related to a single mitochondrial DNA deletion
| Gender | Age (years) | Clinical diagnosis | Age of onset (years) | Clinical characteristics | Mean ROEM (degrees) | Mean T2 (ms) | Mean EOM area (mm2) |
|---|---|---|---|---|---|---|---|
| F | 19 | KSS | 12 | PEO; ptosis; pigmentary retinopathy; proximal muscle weakness; ataxia; SNHL; fatigue; short stature; low BMI; scoliosis | 17.3 | 80.5 | 12.3 |
| M | 28 | CPEO | 16 | PEO; ptosis; fatigue | 10.6 | 70.1 | 20.5 |
| M | 28 | CPEO | 14 | PEO; ptosis | 20.9 | 67.8 | 20.4 |
| F | 28 | KSS | 12 | PEO; ptosis; pigmentary retinopathy; fatigue; dysphagia; facial, truncal, and proximal muscle weakness; migraine; reduced ET; pain; cramps; migraine; SVT | 8.8 | 85.3 | 12.7 |
| F | 29 | KSS | 6 | PEO; ptosis; fatigue; learning difficulties; SNHL; pigmentary retinopathy; DM; hypertension | 25.8 | 69.5 | 15.2 |
| F | 35 | CPEO | 14 | PEO; ptosis; fatigue; low BMI; proximal muscle weakness; pain | 3.2 | 79.9 | 15.1 |
| F | 36 | KSS | 17 | PEO; epilepsy; migraine; pigmentary retinopathy; proximal muscle weakness | 3.1 | 85.7 | 18.6 |
| M | 45 | CPEO | 24 | PEO; ptosis; fungal keratitis (blind in RE) | NA | 83.2 | 15.4 |
| M | 52 | CPEO | 32 | PEO; ptosis | 16.6 | 78.0 | 21.7 |
Mean values are across left and right lateral rectus, inferior rectus, medial rectus, and superior rectus
BMI body mass index, CPEO chronic external progressive ophthalmoplegia, DM diabetes mellitus, EOM extra-ocular muscle, ET exercise tolerance, KSS Kearns-Sayre syndrome, NA not available, RE right eye, ROEM range of eye movement, SNHL sensorineural hearing loss, SVT supraventricular tachycardia