Article
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.
Orphanet journal of rare diseases - 9 Aug 2022
Zibold Julia, von Livonius Bettina, Kolarova Hana, Rudolph Günter, Priglinger Claudia S, Klopstock Thomas, Catarino Claudia B
Abstract excerpt
BACKGROUND: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a known cause of optic neuropathy through mitochondrial dysfunction. Here we evaluated the prevalence and clinical significance of vitamin B12 deficiency in a large cohort of LHON patients and asymptomatic...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Child
- Child, Preschool
- DNA, Mitochondrial
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Optic Atrophy, Hereditary, Leber
- Prospective Studies
- Vitamin B 12