A. S. Startseva

Leber hereditary optic neuropathy: a clinical case of an autosomal recessive form associated with a DNAJC30 mutation

Leber hereditary optic neuropathy is a hereditary disorder that occurs in 90%–95% of cases due to a mutation in mitochondrial DNA. Recent publications have described an autosomal recessive form of Leber hereditary optic neuropathy caused by biallelic mutations in the nuclear DNAJC30 gene. This autosomal recessive form...