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ORPHA:49382

Achromatopsia

low confidenceDisorder

Also known as: ACHM · Complete or incomplete color blindness · Pingelapese blindness · Rod monochromacy · Rod monochromatism · Total color blindness

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,837

Trials

7

Interventional, condition-specific

Researchers

1,120

Distinct authors in sample

Gene link

NDRG4, PDE6H

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

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 (5)

achromatopsia · complete or incomplete color blindness · complete or incomplete colour blindness · total color blindness · total colour blindness

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — NDRG4, PDE6H

  2. LiteraturePresent

    2,837 matched papers (1,561 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov

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 (NDRG4, PDE6H).

GenCC classification: Strong.

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?

2,837

2,837 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.

2,837 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).

1,561 in the last 10 years · low confidence

Phrase hits: 2,837 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,120

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Kohl S18 papers · 2025

    Institute for Ophthalmic Research, Center for Ophthalmology, University of Tuebingen, 72076, Tuebingen, Germany.

    Papers in Europe PMC
  2. 02
    Banin E12 papers · 2026

    Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  3. 03
    Stingl K11 papers · 2026

    University Eye Hospital, Center for Ophthalmology, University of Tuebingen, 72076, Tuebingen, Germany; Center for Rare Eye Diseases, University of Tuebingen, 72076, Tuebingen, Germany.

    Papers in Europe PMC
  4. 04
    Michaelides M6 papers · 2025

    University College London Institute of Ophthalmology, London, UK.

    Papers in Europe PMC
  5. 05
    Tsang SH6 papers · 2026

    Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

    Papers in Europe PMC
  6. 06
    Wissinger B6 papers · 2024

    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. wissinger@uni-tuebingen.de.

    Papers in Europe PMC
  7. 07
    Carroll J5 papers · 2026

    Department of Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin.

    Papers in Europe PMC
  8. 08
    Levin N5 papers · 2025

    fMRI Unit, Department of Neurology, Hadassah Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  9. 09
    Mahroo OA5 papers · 2025

    University College London Institute of Ophthalmology, London, UK.

    Papers in Europe PMC
  10. 10
    Yahalom C5 papers · 2026

    Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

low confidence · 89.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

5 observational studies match 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

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 2026-07-26

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.

"Achromatopsia" OR "Complete or incomplete color blindness" OR "Pingelapese blindness" OR "Rod monochromacy" OR "Rod monochromatism" OR "Total color blindness" OR "complete or incomplete colour blindness" OR "total colour blindness"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Achromatopsia" OR "Complete or incomplete color blindness" OR "Pingelapese blindness" OR "Rod monochromacy" OR "Rod monochromatism" OR "Total color blindness" OR "complete or incomplete colour blindness" OR "total colour blindness" OR "NDRG4" OR "PDE6H"

Recall-expansion terms: NDRG4, PDE6H

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 5 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

Synonyms dropped by stoplist: ACHM

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T00:17:33.471Z