Optic atrophy: genetic causes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Optic atrophy: genetic causes. Cobalamin C disease (cbIC), Vitamin B6 deficiency, Acute intermittent porphyria (AIP). Fully referenced neurology checklist.
Nutritional and metabolic
- Cobalamin C disease (cbIC)
- Vitamin B6 deficiency
- Acute intermittent porphyria (AIP)
- Propionic academia
- Costeff optic atrophy syndrome
- Mucopolysaccharidoses
- Wolfram syndrome (DIDMOAD)
Mitochondrial
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Genetic neuropathy
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Neurodegenerative
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Dystonic
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Miscellaneous causes
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Acronyms
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References
- Morel CF, Lerner-Ellis JP, Rosenblatt DS. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab 2006; 88:315-321.
- Patton N, Beatty S, Lloyd IC, Wraith JE. Optic atrophy in association with cobalamin C (cblC) disease. Ophthalmic Genet 2000; 21:151-154.
- Ku CA, Ng JK, Karr DJ, et al. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. Ophthalmic Genet 2016; 37:404-414.
- Philipsen WM, Hommes OR. Atrophy of the optic nerve and vitamin B6 deficiency. Ophthalmologica 1970; 160:103-104.
- DeFrancisco M, Savino PJ, Schatz NJ. Optic atrophy in acute intermittent porphyria. Am J Ophthalmol 1979; 87:221-224.
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