Mitochondrial optic neuropathies
Evidence-based neurology checklist on mitochondrial optic neuropathies: Inherited causes Leber hereditary optic neuropathy (LHON) Dominant optic atrophy (DOA, OPA1 mutations) Friedreich’s ataxia (FA) Hereditary motor sensory neuropathy 6 (HMSN 6; MFN 2) Hereditary spastic paraparesis 7 (SPG7;…
Inherited causes
- Leber hereditary optic neuropathy (LHON)
- Dominant optic atrophy (DOA, OPA1 mutations)
- Friedreich’s ataxia (FA)
- Hereditary motor sensory neuropathy 6 (HMSN 6; MFN 2)
- Hereditary spastic paraparesis 7 (SPG7; paraplegin)
Acquired causes: medical
Acquired causes: toxins
Acquired causes: drugs
Acquired causes: vitamin deficiencies
Clinical features
Differential diagnosis
Investigations
Treatments
References
- Pilz YL, Bass SJ, Sherman J. A review of mitochondrial optic neuropathies: from inherited to acquired forms. J Optom 2017; 10:205-214.
- Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet 2009; 46:145-158.
- Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res 2011; 30:81-114.
- Ng WSV, Trigano M, Freeman T, et al. New avenues for therapy in mitochondrial optic neuropathies. Ther Adv Rare Dis 2021; 2:26330040211029037.
