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Leber hereditary optic neuropathy, autosomal recessive
rareA 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.
- Identifiers
- MONDO:0030309
- Also known as
- LHONAR
Subtypes
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