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Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.


ABSTRACT:

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 mutation carriers from a tertiary referral center.

Methods

From the Munich LHON prospective cohort study, participants included all LHON patients and asymptomatic LHON mutation carriers, who were recruited between February 2014 and March 2020 and consented to participate. Neurological, general, and ophthalmological examinations were regularly performed, as were laborator

SUBMITTER: Zibold J 

PROVIDER: S-EPMC9361590 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature