raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:499096

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enIsolated optic neuritisION
frNévrite optique isolée
deOptikusneuritis, isolierte= en
esNeuritis óptica aislada= en
itNeurite ottica isolata
nlGeïsoleerde opticusneuritis= en
ptNeurite óptica isolada
plIzolowane zapalenie nerwu wzrokowego= en
csIzolovaná neuritida optiku= en
ukІзольований неврит зорового нерва= en
zh单发视神经炎= en
trİzole optik nevrit= en

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10H46NTBTspecificvalidated
ICD-119C40.1Especificvalidated
MONDO0044688Evalidated
UMLSC5848152Evalidated
MedDRA10030942Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

Children (3):

Codes that Orphanet moved or referred to this one:

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

12 annotations · validated 2024-12-18
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0007641Dyschromatopsia
HP:0030857Eye movement-induced pain
HP:0200026Ocular pain
HP:0032036Reduced contrast sensitivity
HP:0001123Visual field defect
Frequent (79-30%)
HP:0000603Central scotoma
HP:0002315Headache
HP:0200057Marcus Gunn pupil
HP:0001085Papilledema
HP:0000572Visual loss
Occasional (29-5%)
HP:0030786Photopsia
Excluded (0%)
HP:0033342Anti-aquaporin 4 antibody positivity

Run the differential on the 5 obligate / very frequent terms

Annotation source: 31229520[PMID]_37364518[PMID]_37364518[PMID]

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Sources for this card