Clinical description
The demographic, clinical and quantitative MRI findings for the patient group are summarised in Table 1, and for the control group in Table 2.
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
Table 2 Demographic, clinical and magnetic resonance imaging findings in healthy controls
Gender Age (years) Mean ROEM (degrees) Mean T2 (ms) Mean EOM area (mm2)
F 26 51.5 46.9 32.3
M 28 NA 53.6 36.2
F 28 50.7 56.2 34.1
M 29 45.5 48.9 36.5
F 33 44.1 57.3 29.3
F 35 53.2 57.1 34.9
F 38 49.5 58.4 28.9
F 39 50.2 58.8 32.3
M 43 49.5 58.5 37.6
Mean values are across left and right lateral rectus, inferior rectus, medial rectus, and superior rectus
EOM extra-ocular muscle, NA not available, ROEM range of eye movement