ORPHA:251295
Pigmented paravenous retinochoroidal atrophy
Also known as: PPRCA
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.
Is anyone studying this?
141
141 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=183) is 38.
141 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
89 in the last 10 years · high confidence · 65th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Possibly — only limited evidence so far for CRB1.
GenCC classification: Limited.
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.
- 01Bandello F4 papers · 2024
Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 02Fleckenstein M4 papers · 2021
Department of Ophthalmology, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 03Hayashi T4 papers · 2026
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 04Heckenlively JR4 papers · 1985Papers in Europe PMC
- 05Holz FG4 papers · 2021
Department of Ophthalmology, University of Bonn, Bonn, Germany. Electronic address: frank.holz@ukbonn.de.
Papers in Europe PMC - 06Marques JP4 papers · 2026
Clinical Academic Centre of Coimbra (CACC), Coimbra, Portugal. marquesjoaopedro@gmail.com.
Papers in Europe PMC - 07Battaglia Parodi M3 papers · 2024
Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 08Charbel Issa P3 papers · 2009
Universitäts-Augenklinik, Rheinische Friedrich-Wilhelms-Universität Bonn, Ernst-Abbe-Strasse 2, Bonn.
Papers in Europe PMC - 09Helb HM3 papers · 2009Papers in Europe PMC
- 10Mizobuchi K3 papers · 2026
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
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 below but are not added to the query string.
"Pigmented paravenous retinochoroidal atrophy" OR "PPRCA"
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" OR "CRB1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C566801 OMIM:172870 UMLS:C1868310
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; 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