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ORPHA:209932

Cone dystrophy with supernormal rod response

low confidenceDisorder

Also known as: Cone dystrophy with supernormal rod ERG · Cone dystrophy with supernormal rod electroretinogram · Cone dystrophy with supernormal scotopic electroretinogram

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

Publications

809

Trials

0

Interventional, condition-specific

Researchers

506

Distinct authors in sample

Gene link

KCNV2

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Cone with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

cone dystrophy with supernormal rod ERG · cone dystrophy with supernormal rod electroretinogram · cone dystrophy with supernormal rod response · cone dystrophy with supernormal scotopic electroretinogram · retinal cone dystrophy type 3B

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — KCNV2

  2. LiteraturePresent

    809 matched papers (518 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Astigmatism; Nyctalopia; Photophobia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 5 for broader category cone dystrophy

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 (KCNV2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0012475

  • Astigmatism
  • Nyctalopia
  • Photophobia
  • Reduced visual acuity
  • Cone/cone-rod dystrophy

Showing 5 of 10 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

809

809 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.

809 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).

518 in the last 10 years · low confidence

Phrase hits: 84 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

506

Distinct author names in 84 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Michaelides M10 papers · 2025

    Institute of Ophthalmology, University College London, London EC1V 9EL, UK.

    Papers in Europe PMC
  2. 02
    Robson AG10 papers · 2022

    Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, UK. anthony.robson@moorfields.nhs.uk.

    Papers in Europe PMC
  3. 03
    Webster AR8 papers · 2022

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

    Papers in Europe PMC
  4. 04
    Holder GE7 papers · 2018

    Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, UK.

    Papers in Europe PMC
  5. 05
    Hunt DM6 papers · 2021

    Centre for Ophthalmology and Vision Science, The University of Western Australia, Perth, WA 6009, Australia.

    Papers in Europe PMC
  6. 06
    Kohl S6 papers · 2021

    Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen Tübingen, Germany.

    Papers in Europe PMC
  7. 07
    Moore AT6 papers · 2014
    Papers in Europe PMC
  8. 08
    Wissinger B6 papers · 2021

    Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen Tübingen, Germany.

    Papers in Europe PMC
  9. 09
    Alsalloum A4 papers · 2025

    Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Baltiyskaya St. 8, Moscow 125315, Russia.

    Papers in Europe PMC
  10. 10
    Banin E4 papers · 2026

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 5 trials are registered for cone dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

5 interventional trials matched cone dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: cone dystrophy

5

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 dystrophy with supernormal rod response — 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 dystrophy with supernormal rod response" OR "Cone dystrophy with supernormal rod ERG" OR "Cone dystrophy with supernormal rod electroretinogram" OR "Cone dystrophy with supernormal scotopic electroretinogram" OR "retinal cone dystrophy type 3B") OR (MESH:"Retinal Cone Dystrophy 3B") OR ("KCNV2" OR "KCNV2 syndrome" OR "KCNV2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Retinal Cone Dystrophy 3B

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

"Cone dystrophy with supernormal rod response" OR "Cone dystrophy with supernormal rod ERG" OR "Cone dystrophy with supernormal rod electroretinogram" OR "Cone dystrophy with supernormal scotopic electroretinogram" OR "retinal cone dystrophy type 3B" OR "Retinal Cone Dystrophy 3B"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"cone dystrophy"

Query health: suspect — strategies attempted: phrase, mesh; 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 (809) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T09:26:12.996Z