autosomal dominant optic atrophy, classic form
Findings
No curated finding names autosomal dominant optic atrophy, classic form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects.
Definition from the Mondo Disease Ontology (MONDO:0008134), read 2026-09-29. CC BY 4.0.
Features
46 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.
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Color vision defectHPOHP:0000551
- Frequent (30% to 79% of cases)
- Moderately reduced visual acuityHPOHP:0030515
- Frequent (30% to 79% of cases)
- Morning glory anomalyHPOHP:0025514
- Frequent (30% to 79% of cases)
- OphthalmoplegiaHPOHP:0000602
- Frequent (30% to 79% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Temporal optic disc pallorHPOHP:0012511
- Frequent (30% to 79% of cases)
- Progressive external ophthalmoplegiaHPOHP:0000590
- 48 of 104 reported patients
- AtaxiaHPOHP:0001251
- 31 of 104 reported patients
- Occasional (5% to 29% of cases)
- Central scotomaHPOHP:0000603
- Occasional (5% to 29% of cases)
Show the remaining 34
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- MyopathyHPOHP:0003198
- Occasional (5% to 29% of cases)
- PtosisHPOHP:0000508
- Occasional (5% to 29% of cases)
- Proximal muscle weaknessHPOHP:0003701
- 37 of 104 reported patients
- Abnormal periventricular white matter morphologyHPOHP:0002518
- Very rare (1% to 4% of cases)
- AreflexiaHPOHP:0001284
- Very rare (1% to 4% of cases)
Genes
2 genes
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.
Where it sits
Other names
3 names
Resolves to: autosomal dominant optic atrophy, classic form
- Also called
- autosomal dominant optic atrophy, Kjer typeKjer optic atrophyoptic atrophy type 1