Leber hereditary optic neuropathy, autosomal recessive
MONDO:0030309A 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: LHONAR, Leber hereditary optic neuropathy, autosomal recessive
40 clinical trials for this condition and its sub-types.
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Broader categories
Disease
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Metabolic disease
(215)
Hereditary disease
(172)
Inborn mitochondrial metabolism disorder
(57)
Inborn errors of metabolism
(42)
Mitochondrial disease
(39)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Mitochondrial respiratory chain complex deficiency
(4)
Mitochondrial oxidative phosphorylation disorder
(3)