ACO2-related optic atrophy with or without extraocular features
MONDO:1060120Mondo
Findings
No curated finding names ACO2-related optic atrophy with or without extraocular features yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration.
Definition from the Mondo Disease Ontology (MONDO:1060120), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (1)