Autosomal dominant optic atrophy and cataracts (ADOAC)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal dominant optic atrophy and cataracts (ADOAC). This is caused by mutations in the OPA3 gene. Fully referenced neurology checklist.
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+
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References
- Horga A, Bugiardini E, Manole A, et al. Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. Neurol Genet 2019; 5:e322.
- 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.
- 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.
