Mitochondrial disorder with OPA1 mutation lacking optic atrophy

Margherita Milone, Brian R. Younge, Jing Wang, Shulin Zhang, Lee Jun Wong

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


OPA1 is highly expressed in retina and optic nerve. OPA1 mutations were first identified in patients with non-syndromic autosomal dominant optic atrophy. Recently, OPA1 mutations were detected in a multisystemic disorder which has optic atrophy as the core clinical feature and multiple mitochondrial DNA (mtDNA) deletions in muscle. We report a patient with a multisystemic disorder and multiple muscle mtDNA deletions, carrying an in-frame deletion in OPA1 in the absence of optic atrophy. This patient provides evidence that optic atrophy is not the main clinical manifestation of OPA1-related disorders. OPA1 analysis should be considered in mitochondrial disorders despite the lack of optic atrophy.

Original languageEnglish (US)
Pages (from-to)279-281
Number of pages3
Issue number4
StatePublished - Jul 2009


  • Mitochondrial disorder
  • OPA1
  • Optic atrophy

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology


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