Chronic progressive external ophthalmoplegia (CPEO) is a rare mitochondrial ocular disorder.
On this page:
Clinical presentation
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.
Pathology
Genetics
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.
Radiographic features
MRI
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.
Unable to process the form. Check for errors and try again.