Leber hereditary optic neuropathy, autosomal recessive

Definition

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.

Also known as Leber hereditary optic neuropathy, autosomal recessive, LHONAR — per MONDO

Also identified as

• UMLS C5543589 per MONDO