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.
MONDO:0100223
mitochondrial complex I deficiency, nuclear type
is_a
LHONAR
exact
Leber hereditary optic neuropathy, autosomal recessive
exact