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  2. Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive progressive external ophthalmoplegia

Definition:

Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant PEO (PEOA). Conversely, the autosomal recessive PEO (PEOB) has only been associated with mutations in POLG1. Recently, mutations in RNASEH1, TK2, and DGUOK has been identified.

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