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ORPHA:251295

Pigmented paravenous retinochoroidal atrophy

low confidenceDisorder

Also known as: PPRCA

Publications

2,800

Trials

0

Interventional, condition-specific

Researchers

887

Distinct authors in sample

Gene link

CRB1

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non- or slowly chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.

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.

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.”

3/6 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.

  1. Gene identifiedPresent

    Limited — CRB1

  2. LiteraturePresent

    2,800 matched papers (1,758 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. Spicular pigmentation of the retina; Vitreoretinopathy; Esotropia) 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 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?

Possibly — only limited evidence so far for CRB1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

5

Associated phenotypes · MONDO:0008246

  • Spicular pigmentation of the retina
  • Vitreoretinopathy
  • Esotropia
  • Paravenous chorioretinal atrophy
  • Hypermetropia

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 2026-07-27

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?

2,800

2,800 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.

2,800 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).

1,758 in the last 10 years · low confidence

Phrase hits: 138 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

887

Distinct author names in 141 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
    Bandello F4 papers · 2024

    Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Fleckenstein M4 papers · 2021

    Department of Ophthalmology, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  3. 03
    Hayashi T4 papers · 2026

    Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Heckenlively JR4 papers · 1985
    Papers in Europe PMC
  5. 05
    Holz FG4 papers · 2021

    Department of Ophthalmology, University of Bonn, Bonn, Germany. Electronic address: frank.holz@ukbonn.de.

    Papers in Europe PMC
  6. 06
    Marques JP4 papers · 2026

    Clinical Academic Centre of Coimbra (CACC), Coimbra, Portugal. marquesjoaopedro@gmail.com.

    Papers in Europe PMC
  7. 07
    Battaglia Parodi M3 papers · 2024

    Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Charbel Issa P3 papers · 2009

    Universitäts-Augenklinik, Rheinische Friedrich-Wilhelms-Universität Bonn, Ernst-Abbe-Strasse 2, Bonn.

    Papers in Europe PMC
  9. 09
    Helb HM3 papers · 2009
    Papers in Europe PMC
  10. 10
    Mizobuchi K3 papers · 2026

    Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.

    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 9 September 2026 · last trial check 9 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-27

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 Pigmented paravenous retinochoroidal atrophy — 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.

("Pigmented paravenous retinochoroidal atrophy" OR "PPRCA") OR (MESH:"Pigmented Paravenous Chorioretinal Atrophy") OR ("CRB1" OR "CRB1 syndrome" OR "CRB1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pigmented Paravenous Chorioretinal Atrophy

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

"Pigmented paravenous retinochoroidal atrophy" OR "PPRCA" OR "Pigmented Paravenous Chorioretinal Atrophy"

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

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

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 (2800) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:23:43.700Z