Trait
Leber optic atrophy
Degeneration of retinal ganglion cells and their axons.
Summary
- Also called
- Leber optic atrophy features, Leber optic degeneration
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test13 genes linked to Leber optic atrophy
Changes in these genes cause rare conditions in which Leber optic atrophy is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CPLX1complexin 1 | Sometimes (5–29%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sometimes (5–29%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Not recorded | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Not recorded | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Not recorded | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Not recorded | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Not recorded | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Not recorded | In 1 condition |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Not recorded | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Not recorded | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Not recorded | In 1 condition |
| PRICKLE3prickle planar cell polarity protein 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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