ORPHA:16
Blue cone monochromatism
Also known as: Atypical X-linked achromatopsia · Blue cone monochromacy · Color blindness, blue monocone monochromatic type · S cone monochromacy · S cone monochromatism · X-linked incomplete achromatopsia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
571
85.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,173
Distinct authors in sample
Gene link
OPN1LW, OPN1MW
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Blue cone monochromatism (BCM) is a X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.
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:0010563
- MeSH:C536238
- OMIM:303700
- UMLS:C0339537
Additional Mondo synonyms (6)
atypical X-linked achromatopsia · blue cone monochromacy · blue cone monochromacy, X-linked recessive · blue cone monochromatism · color blindness, blue monocone monochromatic type · colour blindness, blue monocone monochromatic type
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.”
2/6 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
Definitive — OPN1LW, OPN1MW
- LiteraturePresent
571 matched papers (321 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (OPN1LW, OPN1MW).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
571
571 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=5449) is 41.
571 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
321 in the last 10 years · high confidence · 85.7th percentile (publications denominator)
Phrase hits: 571 · MeSH hits: 0
Who's working on it?
1,173
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.
- 01Kohl S19 papers · 2025
Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
Papers in Europe PMC - 02
- 03Wissinger B15 papers · 2024
Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
Papers in Europe PMC - 04Deng WT12 papers · 2026
Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, FL.
Papers in Europe PMC - 05Baehr W11 papers · 2025
Department of Ophthalmology and Visual Science, Salt Lake City, UT.
Papers in Europe PMC - 06Cideciyan AV10 papers · 2025
Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Papers in Europe PMC - 07Mahroo OA9 papers · 2025
National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.
Papers in Europe PMC - 08Stingl K9 papers · 2025
Center for Ophthalmology, University Hospital, University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 09Carroll J8 papers · 2024
Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin.
Papers in Europe PMC - 10Guan T7 papers · 2026
Biochemistry and Molecular Medicine, West Virginia University, School of Medicine, Morgantown, West Virginia 26506.
Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06491615·RECRUITING·National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Conditions: Inherited Ophthalmic Diseases · Hypopigmentation Disorder · Corneal Dystrophy · Blue-cone Monochromacy·Matched via name phrase
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 on the overview but are not added to the query string.
"Blue cone monochromatism" OR "Atypical X-linked achromatopsia" OR "Blue cone monochromacy" OR "Color blindness, blue monocone monochromatic type" OR "S cone monochromacy" OR "S cone monochromatism" OR "X-linked incomplete achromatopsia" OR "blue cone monochromacy, X-linked recessive" OR "colour blindness, blue monocone monochromatic type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Blue cone monochromatism" OR "Atypical X-linked achromatopsia" OR "Blue cone monochromacy" OR "Color blindness, blue monocone monochromatic type" OR "S cone monochromacy" OR "S cone monochromatism" OR "X-linked incomplete achromatopsia" OR "blue cone monochromacy, X-linked recessive" OR "colour blindness, blue monocone monochromatic type" OR "OPN1LW" OR "OPN1MW"
Recall-expansion terms: OPN1LW, OPN1MW
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:06:20.739Z