Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Mitochondrial complex I deficiency, nuclear type
Leber hereditary optic neuropathy, autosomal recessive
A form of mitochondrial disease that is caused by biallelic (autosomal recessive) mutations in nuclear‑encoded genes normally associated with mitochondrial Complex I subunits or assembly factors. It is characterized by sudden, painless central vision loss, optic nerve microangiopathy, and eventual atrophy in the absence of mtDNA mutations.