Conventional and quantitative MRI was performed in patients with chronic progressive external ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extra-ocular muscles (EOMs) and investigate whether quantitative MRI provides clinically relevant measures of disease

Cathy Woodward

Christopher D. J. Sinclair

Fion Bremner

Gordon T. Plant

Indran Davagnanam

Jasper M. Morrow

John S. Thornton

Mary G. Sweeney

Michael G. Hanna

Nadeem Ali

Robert D. S. Pitceathly

Shamima Rahman

Tarek A. Yousry

Objectives Conventional and quantitative MRI was performed in patients with chronic progressive external

ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extraocular muscles (EOMs) and investigate whether quantitative

MRI provides clinically relevant measures of disease.

Methods Patients with CPEO due to single mitochondrial

DNA deletions were compared with controls. Range of eye

movement (ROEM) measurements, peri-orbital 3 T MRI T1-

weighted (T1w) and short-tau-inversion-recovery (STIR) images, and T2 relaxation time maps were obtained. Blinded

observers graded muscle atrophy and T1w/STIR

hyperintensity. Cross-sectional areas and EOM mean T2s

were recorded and correlated with clinical parameters.

Results Nine patients and nine healthy controls were examined. Patients had reduced ROEM (patients 13.3°, controls

49.3°, p<0.001), greater mean atrophy score and increased

T1w hyperintensities. EOM mean cross-sectional area was

43 % of controls and mean T2s were prolonged (patients

75.6±7.0 ms, controls 55.2±4.1 ms, p<0.001). ROEM correlated negatively with EOM T2 (rho=−0.89, p<0.01), whilst

cross-sectional area failed to correlate with any clinical

measures.

Conclusions MRI demonstrates EOM atrophy, characteristic

signal changes and prolonged T2 in CPEO. Correlation between elevated EOM T2 and ROEM impairment represents a

potential measure of disease severity that warrants further

evaluation.

Key Points

• Chronic progressive external ophthalmoplegia is a common

clinical manifestation of mitochondrial disease.

• Existing extra-ocular muscle MRI data in CPEO reports

variable radiological findings.

• MRI confirmed EOM atrophy and characteristic signal

changes in CPEO.

• EOM T2 was significantly elevated in CPEO and correlated

negatively with ocular movements.

• EOM T2 represents a potential quantitative measure of disease severity in CPEO

Pitceathly, RD

Morrow, JM

Sinclair, CD

Woodward, C

Sweeney, MG

Rahman, S

Plant, GT

Ali, N

Bremner, F

Davagnanam, I

Yousry, TA

Hanna, MG

Thornton, JS

UCL Discovery

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

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European Radiology

Springer - Publisher Connector

http://discovery.ucl.ac.uk/1472666/1/art_10.1007_s00330-015-3801-5.pdf

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

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UCL Discovery

Crossref

Springer - Publisher Connector