Leber hereditary optic neuropathy, autosomal recessive
Findings
No curated finding names Leber hereditary optic neuropathy, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0030309), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNAJC30HGNC:16410
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: Leber hereditary optic neuropathy, autosomal recessive
- Also called
- LHONAR