ORPHA:75374
Bradyopsia
Also known as: PERRS · Prolonged electroretinal response suppression
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
120
59.5th percentile
Trials
0
Interventional, condition-specific
Researchers
644
Distinct authors in sample
Gene link
RGS9, RGS9BP
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic retinal disorder characterized by childhood-onset of markedly delayed visual adaptation to both dark and light conditions, marked difficulties tracking moving objects, and mild photophobia. Visual acuity is variably reduced, while color vision is unaffected.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012033
- MeSH:C564243
- UMLS:C1842073
Additional Mondo synonyms (2)
bradyopsia · prolonged electroretinal response suppression
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — RGS9, RGS9BP
- LiteraturePresent
120 matched papers (68 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (RGS9, RGS9BP).
GenCC classification: Strong.
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?
120
120 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
120 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).
68 in the last 10 years · medium confidence · 59.5th percentile (publications denominator)
Phrase hits: 120 · MeSH hits: 0
Who's working on it?
644
Distinct author names in 120 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.
- 01Michaelides M8 papers · 2022
Moorfields Eye Hospital City Road Campus, London, UK michel.michaelides@ucl.ac.uk.
Papers in Europe PMC - 02Benaroudj N6 papers · 2023
Institut Pasteur, Université Paris Cité, Biologie des Spirochètes, CNRS UMR 6047, F-75015 Paris, France.
Papers in Europe PMC - 03Carroll J6 papers · 2026
Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Papers in Europe PMC - 04Chen CK5 papers · 2019
Departments of Ophthalmology, Neuroscience, and Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030.
Papers in Europe PMC - 05Picardeau M5 papers · 2021
Institut Pasteur, Université de Paris, Biologie des Spirochètes, F-75015 Paris, France.
Papers in Europe PMC - 06Dubis AM4 papers · 2019
UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK. a.dubis@ucl.ac.uk.
Papers in Europe PMC - 07Dubra A4 papers · 2021
Department of Ophthalmology, Stanford University, Palo Alto, CA, Unites States.
Papers in Europe PMC - 08
- 09Martemyanov KA4 papers · 2021
Department of Neuroscience, The Scripps Research Institute, 130 Scripps Way, Jupiter, FL 33458, USA.
Papers in Europe PMC - 10Robson AG4 papers · 2022
Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, UK. anthony.robson@moorfields.nhs.uk.
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).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Bradyopsia" OR "PERRS" OR "Prolonged electroretinal response suppression"
MeSH descriptor terms unioned into the query: Prolonged Electroretinal Response Suppression
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bradyopsia" OR "PERRS" OR "Prolonged electroretinal response suppression" OR "RGS9" OR "RGS9BP"
Recall-expansion terms: RGS9, RGS9BP
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:47:25.199Z