ORPHA:499096
Isolated optic neuritis
Also known as: ION
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare inflammatory optic 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.
Is anyone studying this?
608
608 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
608 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
346 in the last 10 years · medium confidence · 87.4th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
1,390
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Pittock SJ13 papers · 2025
Department of Neurology and Center for Multiple Sclerosis and Autoimmune Neurology Mayo Clinic, Rochester, MN, United States.
Papers in Europe PMC - 02Flanagan EP10 papers · 2024
Department of Neurology and Center for Multiple Sclerosis and Autoimmune Neurology Mayo Clinic, Rochester, MN, United States.
Papers in Europe PMC - 03Marignier R9 papers · 2025
Service de Neurologie, SEP Neuroinflammation et Pathologies de la Myéline, Centre de Référence des Maladies Inflammatoires Rares du Cerveau et de la Moelle (MIRCEM) - Hôpital Pierre Wertheimer, Bron, France.
Papers in Europe PMC - 04Chen JJ8 papers · 2026
Department of Neurology and Center for Multiple Sclerosis and Autoimmune Neurology Mayo Clinic, Rochester, MN, United States.
Papers in Europe PMC - 05Mariotto S8 papers · 2025
Neurology Unit, Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Verona, Italy.
Papers in Europe PMC - 06Wang J7 papers · 2026
Department of Neurology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Papers in Europe PMC - 07Papeix C6 papers · 2025
Service de Neurologie, Hôpital Fondation A. de Rothshchild, Paris, France.
Papers in Europe PMC - 08Paul F6 papers · 2025
Experimental and Clinical Research Center, Max Delbrueck Center for Molecular Medicine and Charité-Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 09Li X5 papers · 2026
Guangzhou Women and Children's Medical Center, Guangzhou, China.
Papers in Europe PMC - 10Peng C5 papers · 2024
Department of Ophthalmology, Chinese PLA General Hospital, Beijing, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Isolated optic neuritis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated optic neuritis" OR "autoimmune/inflammatory optic neuropathy"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5848152
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ION
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus