ORPHA:329211
Autosomal dominant neovascular inflammatory vitreoretinopathy
Also known as: ADNIV
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
511
Trials
0
Interventional, condition-specific
Researchers
849
Distinct authors in sample
Gene link
CAPN5
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, vitreoretinal degeneration characterized by a slowly vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.
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:0100450
- OMIM:193235
- UMLS:C4721549
Additional Mondo synonyms (6)
CAPN5 vitreoretinopathy · VRNI · autosomal dominant neovascular inflammatory vitreoretinopathy · retinitis proliferans · vitreoretinopathy, neovascular inflammatory · vitreoretinopathy, neovascular inflammatory, autosomal dominant
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
Definitive — CAPN5
- LiteraturePresent
511 matched papers (80 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 (CAPN5).
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?
511
511 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.
511 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).
80 in the last 10 years · low confidence
Phrase hits: 511 · MeSH hits: 0
Who's working on it?
849
Distinct author names in 200 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.
- 01Mahajan VB26 papers · 2024
Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA.
Papers in Europe PMC - 02Bassuk AG16 papers · 2022
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Papers in Europe PMC - 03Tsang SH13 papers · 2021
Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, Columbia University, New York, NY, USA.
Papers in Europe PMC - 04Folk JC12 papers · 2022
Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA
Papers in Europe PMC - 05Stone EM9 papers · 2022
Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242.
Papers in Europe PMC - 06Velez G7 papers · 2022
Omics Laboratory, Stanford University, Palo Alto, CA, USA.
Papers in Europe PMC - 07Kohner EM6 papers · 1987Papers in Europe PMC
- 08Mahajan M6 papers · 2021
Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.
Papers in Europe PMC - 09Wert KJ5 papers · 2020
Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and Surgeons.
Papers in Europe PMC - 10Gakhar L4 papers · 2018
Department of Biochemistry, University of Iowa, Iowa City, Iowa 52242, USA.
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.
low 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.
"Autosomal dominant neovascular inflammatory vitreoretinopathy" OR "ADNIV" OR "CAPN5 vitreoretinopathy" OR "retinitis proliferans" OR "vitreoretinopathy, neovascular inflammatory" OR "vitreoretinopathy, neovascular inflammatory, autosomal dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant neovascular inflammatory vitreoretinopathy" OR "ADNIV" OR "CAPN5 vitreoretinopathy" OR "retinitis proliferans" OR "vitreoretinopathy, neovascular inflammatory" OR "vitreoretinopathy, neovascular inflammatory, autosomal dominant" OR "CAPN5"
Recall-expansion terms: CAPN5
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: VRNI
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
- Publication count (511) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T13:45:56.652Z