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ORPHA:231178

Usher syndrome type 2

medium confidenceSubtype of disorder

Also known as: USH2

Publications

4,143

92.5th percentile

Trials

6

Interventional, condition-specific

Researchers

1,373

Distinct authors in sample

Gene link

ADGRV1, USH2A

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare ciliopathy characterized by moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.

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.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ADGRV1, USH2A

  2. LiteraturePresent

    4,143 matched papers (3,203 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Hearing impairment; Abnormal vestibular function; Rod-cone dystrophy) Source

  4. Animal modelPresent

    10 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    6 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 (ADGRV1, USH2A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0016484

  • Hearing impairment
  • Abnormal vestibular function
  • Rod-cone dystrophy
  • Nyctalopia

Showing 4 of 29 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

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)

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?

4,143

4,143 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.

4,143 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).

3,203 in the last 10 years · medium confidence · 92.5th percentile (publications denominator)

Phrase hits: 312 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,373

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
    Duncan JL19 papers · 2025

    Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States.

    Papers in Europe PMC
  2. 02
    Michaelides M16 papers · 2025

    Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.

    Papers in Europe PMC
  3. 03
    Audo I13 papers · 2025

    Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France.

    Papers in Europe PMC
  4. 04
    Cheetham JK13 papers · 2025

    Foundation Fighting Blindness, Columbia, MD, USA.

    Papers in Europe PMC
  5. 05
    Durham TA13 papers · 2025

    Foundation Fighting Blindness, Columbia, MD, USA.

    Papers in Europe PMC
  6. 06
    Ayala AR12 papers · 2025

    Jaeb Center for Health Research, Tampa, FL, USA.

    Papers in Europe PMC
  7. 07
    Stingl K11 papers · 2025

    University Eye Hospital, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  8. 08
    Pennesi ME10 papers · 2025

    Retina Foundation of the Southwest, Dallas, TX, USA.

    Papers in Europe PMC
  9. 09
    Birch DG9 papers · 2025

    Retina Foundation of the Southwest, Dallas, TX, USA.

    Papers in Europe PMC
  10. 10
    Maguire MG9 papers · 2025

    Jaeb Center for Health Research, Tampa, FL, USA.

    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; none in our sample are currently recruiting. 9 trials are registered for Usher syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: Usher syndrome

9

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Usher syndrome type 2 — 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.

("Usher syndrome type 2") OR ("ADGRV1" OR "ADGRV1 syndrome" OR "ADGRV1-related" OR "USH2A" OR "USH2A syndrome" OR "USH2A-related")

Run this search on Europe PMC

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

"Usher syndrome type 2"

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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Usher syndrome"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: USH2

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 2026-07-27T10:14:57.060Z