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ORPHA:1871

Progressive cone dystrophy

low confidenceDisorder

Also known as: Cone dystrophy

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

Publications

3,211

Trials

4

Interventional, condition-specific

Researchers

1,246

Distinct authors in sample

Gene link

IRX5, IRX6, RP1L1

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare retinal characterized by photophobia, loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. cone usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

cone dystrophy

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

    Moderate — IRX5, IRX6, RP1L1

  2. LiteraturePresent

    3,211 matched papers (1,988 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

    4 matched on ClinicalTrials.gov (2 recruiting in sample)

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?

Probably — there is moderate evidence for IRX5, IRX6, RP1L1.

GenCC classification: Moderate.

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?

3,211

3,211 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.

3,211 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).

1,988 in the last 10 years · low confidence

Phrase hits: 3,211 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,246

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
    Tsang SH11 papers · 2026

    Department of Ophthalmology, Colombia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

    Papers in Europe PMC
  2. 02
    Michaelides M9 papers · 2026

    UCL Institute of Ophthalmology, University College London, London, United Kingdom.

    Papers in Europe PMC
  3. 03
    Mahroo OA8 papers · 2026

    UCL Institute of Ophthalmology, University College London, London, United Kingdom.

    Papers in Europe PMC
  4. 04
    MacLaren RE7 papers · 2026

    Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

    Papers in Europe PMC
  5. 05
    Webster AR7 papers · 2026

    UCL Institute of Ophthalmology, University College London, London, United Kingdom.

    Papers in Europe PMC
  6. 06
    Izquierdo N6 papers · 2026

    Department of Surgery, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.

    Papers in Europe PMC
  7. 07
    Audo I5 papers · 2026

    Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

    Papers in Europe PMC
  8. 08
    Quinodoz M5 papers · 2026

    Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland.

    Papers in Europe PMC
  9. 09
    Rivolta C5 papers · 2026

    Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland.

    Papers in Europe PMC
  10. 10
    Stingl K5 papers · 2026

    University Eye Hospital Tübingen, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. katarina.stingl@med.uni-tuebingen.de.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

4 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.

"Progressive cone dystrophy" OR "Cone dystrophy"

Run this search on Europe PMC

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

"Progressive cone dystrophy" OR "Cone dystrophy" OR "IRX5" OR "IRX6" OR "RP1L1"

Recall-expansion terms: IRX5, IRX6, RP1L1

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: 4 interventional · 4 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
  • Publication count (3211) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T18:20:39.060Z