optic atrophy 5
MONDO:0012543Mondo
Findings
No curated finding names optic atrophy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Slowly progressive · Late young adult onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of pattern visual evoked potentialsHPOHP:0030455
- 4 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 4 of 4 reported patients
- Optic disc pallorHPOHP:0000543
- 4 of 4 reported patients
- Central scotomaHPOHP:0000603
- 3 of 4 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 3 of 4 reported patients
- Slow decrease in visual acuityHPOHP:0007924
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.
- DNM1LHGNC:2973
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
1 name
Resolves to: optic atrophy 5
- Also called
- OPA5