ORPHA:88629
Tritanopia
Also known as: Blue colour blindness · Congenital tritanopia · Tritan colour blindness
Publications
2,131
88.6th percentile
Trials
0
Interventional, condition-specific
Researchers
975
Distinct authors in sample
Gene link
OPN1SW
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of colour blindness characterized by a selective deficiency of blue vision.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008610
- OMIM:190900
- UMLS:C0155017
Additional Mondo synonyms (5)
congenital tritanopia · tritan color blindness · tritan colour blindness · tritan defect · tritanopia
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — OPN1SW
- LiteraturePresent
2,131 matched papers (1,263 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Color vision test abnormality; Abnormal retinal morphology; Photophobia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (OPN1SW).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
10
Associated phenotypes · MONDO:0008610
- Color vision test abnormality
- Abnormal retinal morphology
- Photophobia
- Reduced visual acuity
- Pendular nystagmus
Showing 5 of 10 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,131
2,131 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=3967) is 59.
2,131 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,263 in the last 10 years · medium confidence · 88.6th percentile (publications denominator)
Phrase hits: 488 · MeSH hits: 0
Who's working on it?
975
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.
- 01Elfalah M5 papers · 2024
Department of Ophthalmology, The University of Jordan, Amman, Jordan.
Papers in Europe PMC - 02Sodhi PK5 papers · 2026
Ophthalmology, Guru Nanak Eye Centre & Maulana Azad Medical College, New Delhi, IND.
Papers in Europe PMC - 03AlRyalat SA4 papers · 2024
Department of Ophthalmology, The University of Jordan, Amman, Jordan.
Papers in Europe PMC - 04Butt H4 papers · 2025
School of Engineering, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
Papers in Europe PMC - 05Miyake Y4 papers · 1992Papers in Europe PMC
- 06Zrenner E4 papers · 2021
Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
Papers in Europe PMC - 07AlNawiaseh I3 papers · 2024
Department of Surgery (Ophthalmology), King Hussein Cancer Center, Amman 11941, Jordan.
Papers in Europe PMC - 08
- 09Goyal A3 papers · 2026
Ophthalmology, Guru Nanak Eye Centre and Maulana Azad Medical College, New Delhi, IND.
Papers in Europe PMC - 10Ichikawa H3 papers · 1985Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
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 — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (6)
- isrctn·ISRCTN18761383·No longer recruiting·The impact of carotenoids on visual functions and sport performance
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN85547604·No longer recruiting·Effects of the Ronnie Gardiner Method - A randomized controlled trial on Parkinson's disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN14145737·No longer recruiting·Comparison of visual outcomes, spectacles dependence and patient satisfaction after implantation of SN6AD1, SN6AD3, FIL611PV and FIL618 intraocular lenses for cataract surgery
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN56985060·No longer recruiting·Macular Pigment and Glaucoma Trial
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13894787·No longer recruiting·Central Retinal Enrichment Supplementation Trials - enrichment of macular pigment in subjects with age-related macular degeneration (AMD)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN35481392·No longer recruiting·Collaborative Optical Macular Pigment ASsessment Study
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Tritanopia — check Associations / patient organisations on that page.
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 on the overview but are not added to the query string.
("Tritanopia" OR "Blue colour blindness" OR "Congenital tritanopia" OR "Tritan colour blindness" OR "tritan color blindness" OR "tritan defect") OR ("OPN1SW" OR "OPN1SW syndrome" OR "OPN1SW-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Tritanopia" OR "Blue colour blindness" OR "Congenital tritanopia" OR "Tritan colour blindness" OR "tritan color blindness" OR "tritan defect"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:23:05.515Z