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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

Publications

4,531

Trials

7

Interventional, condition-specific

Researchers

1,120

Distinct authors in sample

Gene link

NDRG4, PDE6H

Strong

Readiness

6/6

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.”

6/6 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

    4,531 matched papers (2,788 in last 10 years) Source

  3. Phenotype characterisedPresent

    85 HPO annotations (e.g. Color vision defect; Inner retinal layer loss on macular OCT; Myopia) Source

  4. Animal modelPresent

    14 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. adenovirus associated viral vector serotype 2/8 containing the human CNGA3 gene (entacingene turiparvovec) Source

  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)

85

Associated phenotypes · MONDO:0018852

  • Color vision defect
  • Inner retinal layer loss on macular OCT
  • Myopia
  • Abnormal pupillary light reflex
  • Attenuation of retinal blood vessels

Showing 5 of 85 — open Monarch for the full list.

Animal models (Monarch / Alliance)

14

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA adenovirus associated viral vector serotype 2/8 containing the human CNGA3 gene (entacingene turiparvovec)Treatment of achromatopsia · 31/07/2018 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0018852

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,531

4,531 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.

4,531 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).

2,788 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 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

low confidence · 90.9th 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Achromatopsia — 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.

("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 "NDRG4 syndrome" OR "NDRG4-related" OR "PDE6H" OR "PDE6H syndrome" OR "PDE6H-related")

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"

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: ok — strategies attempted: phrase; 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