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ORPHA:16

Blue cone monochromatism

high confidenceDisorder

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

Publications

1,496

87.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,193

Distinct authors in sample

Gene link

OPN1LW, OPN1MW

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — OPN1LW, OPN1MW

  2. LiteraturePresent

    1,496 matched papers (982 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Blue cone monochromacy; Pendular nystagmus; Photophobia) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

20

Associated phenotypes · MONDO:0010563

  • Blue cone monochromacy
  • Pendular nystagmus
  • Photophobia
  • Reduced visual acuity
  • Visual impairment

Showing 5 of 20 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

1,496

1,496 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.

1,496 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).

982 in the last 10 years · high confidence · 87.3th percentile (publications denominator)

Phrase hits: 571 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,193

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.

  1. 01
    Neitz M16 papers · 2026

    Department of Ophthalmology, University of Washington, Seattle, Washington, USA.

    Papers in Europe PMC
  2. 02
    Kohl S15 papers · 2024

    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.

    Papers in Europe PMC
  3. 03
    Neitz J14 papers · 2026

    Department of Ophthalmology, University of Washington, Seattle, Washington, USA.

    Papers in Europe PMC
  4. 04
    Wissinger B14 papers · 2024

    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.

    Papers in Europe PMC
  5. 05
    Michaelides M12 papers · 2024

    UCL Inst. of Ophthalmology, London, UK.

    Papers in Europe PMC
  6. 06
    Deng WT11 papers · 2026

    Ophthalmology, University of Florida, Gainesville, FL, USA.

    Papers in Europe PMC
  7. 07
    Baehr W10 papers · 2025

    Opthalmology and Visual Sciences, University of Utah, Salt Lake City, UT, USA.

    Papers in Europe PMC
  8. 08
    Carroll J10 papers · 2026

    Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA; Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA; Department of Biomedical Engineering, Medical College of Wisconsin, Milwaukee, WI, USA.

    Papers in Europe PMC
  9. 09
    Cideciyan AV9 papers · 2025

    1 Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104.

    Papers in Europe PMC
  10. 10
    Jacobson SG7 papers · 2023

    Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

    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 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.

high 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.

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

Open the complete matched search on ClinicalTrials.gov

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Blue cone monochromatism — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("OPN1LW" OR "OPN1LW syndrome" OR "OPN1LW-related" OR "OPN1MW" OR "OPN1MW syndrome" OR "OPN1MW-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 1 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 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