RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1872

Cone rod dystrophy

medium confidenceDisorder

Publications

6,045

93.3th percentile

Trials

6

Interventional, condition-specific

Researchers

1,238

Distinct authors in sample

Gene link

GPR45, GUCY2D, RIMS1

Definitive

Readiness

6/6

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.”

6/6 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

    6,045 matched papers (3,683 in last 10 years) Source

  3. Phenotype characterisedPresent

    289 HPO annotations (e.g. Optic disc pallor; Attenuation of retinal blood vessels; Color vision defect) Source

  4. Animal modelPresent

    31 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. adeno-associated viral vector serotype 5 expressing the human Cone-Rod Homeobox gene Source

  6. Interventional trialPresent

    6 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)

289

Associated phenotypes · MONDO:0015993

  • Optic disc pallor
  • Attenuation of retinal blood vessels
  • Color vision defect
  • Dyschromatopsia
  • Spicular pigmentation of the retina

Showing 5 of 289 — open Monarch for the full list.

Animal models (Monarch / Alliance)

31

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 adeno-associated viral vector serotype 5 expressing the human Cone-Rod Homeobox geneTreatment of cone-rod dystrophy · 15/10/2021 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0015993

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,045

6,045 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,045 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).

3,683 in the last 10 years · medium confidence · 93.3th 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?

6

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

medium confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 Cone rod dystrophy — 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.

("Cone rod dystrophy") OR ("GPR45" OR "GPR45 syndrome" OR "GPR45-related" OR "GUCY2D" OR "GUCY2D syndrome" OR "GUCY2D-related" OR "RIMS1" OR "RIMS1 syndrome" OR "RIMS1-related")

Run this search on Europe PMC

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

"Cone rod dystrophy"

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: 6 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: 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