optic atrophy 2
MONDO:0010698Mondo
Findings
No curated finding names optic atrophy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
Definition from the Mondo Disease Ontology (MONDO:0010698), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Central scotomaHPOHP:0000603
- Frequent (30% to 79% of cases)
- Color vision defectHPOHP:0000551
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- Optic disc pallorHPOHP:0000543
- Frequent (30% to 79% of cases)
- Progressive visual lossHPOHP:0000529
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- Abnormal nervous system physiologyHPOHP:0012638
- Occasional (5% to 29% of cases)
- AsterixisHPOHP:0012164
- Occasional (5% to 29% of cases)
- Babinski signHPOHP:0003487
- Occasional (5% to 29% of cases)
- ChoreoathetosisHPOHP:0001266
- Occasional (5% to 29% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Occasional (5% to 29% of cases)
- DysdiadochokinesisHPOHP:0002075
- Occasional (5% to 29% of cases)
Show the remaining 5
- Emotional labilityHPOHP:0000712
- Occasional (5% to 29% of cases)
- Gait ataxiaHPOHP:0002066
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Intention tremorHPOHP:0002080
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: optic atrophy 2
- Also called
- non-Leber type optic atrophy with early-onsetOPA2optic atrophy 2, X-linkedoptic atrophy type 2