Chronic Progressive External Ophthalmoplegia - Symptom or Syndrome?

The term chronic progressive external ophthalmoplegia (CPEO) is not only a symptom but is also used as a syndrome within the group of mitochondrial diseases. However, the symptom CPEO might also occur in other well defined mitochondrial syndromes such as MELAS, MNGIE, SANDO. The molecular bases of the syndrome CPEO are mostly single or multiple deletions of the mtDNA, less frequently point mutations. Multiple deletions are caused by defects of nuclear encoded proteins. In this case, the mode of inheritance might be autosomal dominant or recessive. However, all these types of mtDNA mutations are not only associated with the symptom or syndrome of CPEO but might also cause other well defined mitochondrial syndromes. Thus, the diagnosis of CPEO either as a symptom or as a syndrome requires the subtle characterisation of the complete clinical phenotype as well as the precise genotype. Only on this basis a valid prognosis and information about the mode of inheritance are possible.