Isolated optic neuritis
Synonyms: ION
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated optic neuritis | ION |
| fr | Névrite optique isolée | |
| de | Optikusneuritis, isolierte | = en |
| es | Neuritis óptica aislada | = en |
| it | Neurite ottica isolata | |
| nl | Geïsoleerde opticusneuritis | = en |
| pt | Neurite óptica isolada | |
| pl | Izolowane zapalenie nerwu wzrokowego | = en |
| cs | Izolovaná neuritida optiku | = en |
| uk | Ізольований неврит зорового нерва | = en |
| zh | 单发视神经炎 | = en |
| tr | İzole optik nevrit | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H46 | NTBT | specific | validated |
| ICD-11 | 9C40.1 | E | specific | validated |
| MONDO | 0044688 | E | validated | |
| UMLS | C5848152 | E | validated | |
| MedDRA | 10030942 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:499047Autoimmune/inflammatory optic neuropathy
rare ophthalmic disorders - ORPHA:182064Rare neuroinflammatory or neuroimmunological disease
rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:592885OBSOLETE: Isolated optic neuritis without anti-MOG antibodies referred to · inactive
- ORPHA:592888OBSOLETE: Isolated optic neuritis with anti-MOG antibodies referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
12 annotations · validated 2024-12-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007641 | Dyschromatopsia | |
| HP:0030857 | Eye movement-induced pain | |
| HP:0200026 | Ocular pain | |
| HP:0032036 | Reduced contrast sensitivity | |
| HP:0001123 | Visual field defect | |
| Frequent (79-30%) | ||
| HP:0000603 | Central scotoma | |
| HP:0002315 | Headache | |
| HP:0200057 | Marcus Gunn pupil | |
| HP:0001085 | Papilledema | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0030786 | Photopsia | |
| Excluded (0%) | ||
| HP:0033342 | Anti-aquaporin 4 antibody positivity | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 31229520[PMID]_37364518[PMID]_37364518[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/499096
- This record as JSON: /data/d/499096.json