Optic atrophy: genetic causes

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

Genetic neuropathy

Neurodegenerative

Dystonic

Miscellaneous causes

Acronyms

References

1. 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. 
2. Patton N, Beatty S, Lloyd IC, Wraith JE. Optic atrophy in association with cobalamin C (cblC) disease. Ophthalmic Genet 2000; 21:151-154.
3. 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.
4. Philipsen WM, Hommes OR. Atrophy of the optic nerve and vitamin B6 deficiency. Ophthalmologica 1970; 160:103-104.
5. DeFrancisco M, Savino PJ, Schatz NJ. Optic atrophy in acute intermittent porphyria. Am J Ophthalmol 1979; 87:221-224.
6. And 35 more. Subscribe to see the full list

Related checklists

• Optic atrophy: non-genetic causes
• Optic atrophy: clinical features
• Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
• PEHO syndrome
• Costeff syndrome