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ORPHA:1872

Cone rod dystrophy

medium confidenceDisorder

Publications

3,711

95.8th percentile

Trials

7

Interventional, condition-specific

Researchers

1,238

Distinct authors in sample

Gene link

GPR45, GUCY2D, RIMS1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.

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 (1)

CRD

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

    Definitive — GPR45, GUCY2D, RIMS1, SLC4A7, UBAP1L…

  2. LiteraturePresent

    3,711 matched papers (2,305 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 (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?

Yes — we know a specific gene responsible (GPR45, GUCY2D, RIMS1…).

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?

3,711

3,711 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.

3,711 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).

2,305 in the last 10 years · medium confidence · 95.8th percentile (publications denominator)

Phrase hits: 3,711 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,238

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
    Li Y6 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.

    Papers in Europe PMC
  2. 02
    Moosajee M5 papers · 2026

    Moorfields Eye Hospital NHS Foundation Trust, London, England, United Kingdom.

    Papers in Europe PMC
  3. 03
    Tsang SH5 papers · 2026

    Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA.

    Papers in Europe PMC
  4. 04
    Alekseev O4 papers · 2026

    Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina, USA.

    Papers in Europe PMC
  5. 05
    Cehajic-Kapetanovic J4 papers · 2026

    Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.

    Papers in Europe PMC
  6. 06
    El Shamieh S4 papers · 2026

    Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Molecular Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.

    Papers in Europe PMC
  7. 07
    Fujinami K4 papers · 2026

    Moorfields Eye Hospital (S.S, L.F., K.F., G.W., A.W., O.M., A.R., M.G., M.MM), London, United Kingdom; UCL Institute of Ophthalmology (S.S., K.F., Y.F.-K., A.W., O.M., A.R., M.G., M.M.), University College London, London, United Kingdom; Laboratory of Visual Physiology, Division of Vision Research (K.F., Y.F.-Y.), National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Hayashi T4 papers · 2026

    Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    MacLaren RE4 papers · 2026

    Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.

    Papers in Europe PMC
  10. 10
    Mahroo OA4 papers · 2026

    Institute of Ophthalmology, University College London, London, UK.

    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; 2 currently recruiting in our sample.

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).

medium 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.

Observational and natural-history studies

6 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.

"Cone rod dystrophy"

Run this search on Europe PMC

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

"Cone rod dystrophy" OR "GPR45" OR "GUCY2D" OR "RIMS1"

Recall-expansion terms: GPR45, GUCY2D, RIMS1

Interventional trials matched via: phrase, recall-expansion (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 · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CRD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:21:01.079Z