Autosomal dominant optic atrophy and cataracts (ADOAC)

Evidence-based neurology checklist on autosomal dominant optic atrophy and cataracts (adoac): ADOAC This is caused by mutations in the OPA3 gene The transmission is autosomal dominant It causes optic atrophy There may be associated cataracts ADOAC+

ADOAC

  • This is caused by mutations in the OPA3 gene
  • The transmission is autosomal dominant
  • It causes optic atrophy
  • There may be associated cataracts

ADOAC+

References

  1. Horga A, Bugiardini E, Manole A, et al. Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. Neurol Genet 2019; 5:e322.
  2. Sergouniotis PI, Perveen R, Thiselton DL, et al. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics 2015; 16:69-75.
  3. Bourne SC, Townsend KN, Shyr C, et al. Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. Cold Spring Harb Mol Case Stud 2017; 3:a001156.

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