Dominant optic atrophy (DOA)
Evidence-based neurology checklist on dominant optic atrophy (doa): Genetics This is caused by mutations in the OPA1 gene The gene encodes a dynamin-like GTPase This is located on the inner mitochondrial membrane The transmission is autosomal dominant Non-syndromic DOA Syndromic DOA (DOA plus)…
Genetics
- This is caused by mutations in the OPA1 gene
- The gene encodes a dynamin-like GTPase
- This is located on the inner mitochondrial membrane
- The transmission is autosomal dominant
Non-syndromic DOA
Syndromic DOA (DOA plus)
Ophthalmological assessments
References
- Amati-Bonneau P, Valentino ML, Reynier P, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008; 131:338-351.
- Nass RD, Hansen N, Quesada C, et al. Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier. Seizure 2019; 66:1-3.
- Ahmad KE, Davis RL, Sue CM. A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family. J Neurol 2015; 262:2323-2328.
- Marelli C, Amati-Bonneau P, Reynier P, et al. Heterozygous OPA1 mutations in Behr syndrome. Brain 2011; 134:1-2.
- Wong DCS, Harvey JP, Jurkute N, et al. OPA1 dominant optic atrophy: pathogenesis and therapeutic targets. J Neuroophthalmol 2023; 43:464-474.
