Chronic progressive external ophthalmoplegia

Last revised by Dr Daniel J Bell on 13 Jan 2020

Chronic progressive external ophthalmoplegia (CPEO) is a rare mitochondrial ocular disorder.

Patients present with slowly progressive bilateral ophthalmoplegia (limitation of eye motion) and blepharoptosis.

The entity can manifest in isolation or as a syndrome with other neurological deficits, the latter of which is referred to as CPEO+. One specific syndromic variant of CPEO is Kearns-Sayre syndrome, which additionally has a pigmentary retinopathy and cardiac conduction abnormalities.

Patients either have a large deletion of mitochondrial DNA or multiple deletions due to mutations in nuclear genes that affect mitochondrial DNA repair or replication 1.

Patients show variable levels of mild to moderate extraocular muscle atrophy (25-60% volume loss compared to normal controls) 1-3. The findings should be bilaterally symmetric.

Some affected patients show extraocular muscle signal abnormalities, including T1 hyperintensity and very occasionally STIR hyperintensity 3. The T1 hyperintensity appears spongiform or like streaks within the muscle 2,3.

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