ORPHA:75373
Progressive bifocal chorioretinal atrophy
Also known as: CRAPB · PBCRA
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
93
52.7th percentile
Trials
0
Interventional, condition-specific
Researchers
550
Distinct authors in sample
Gene link
PRDM13
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic isolated chorioretinal characterized by distinctive slowly progressing chorioretinal atrophic lesions inducing significant visual impairment. There are three clinical stages. Atrophic macular lesion and nasal subretinal deposits are evident soon after birth (stage 1), the macular lesions progress beyond the retinal vascular arcades, and the foci of nasal atrophy coalesce into a confluent white lesion (stage 2), and marked expansion of both the macular and the nasal atrophic lesions toward the optic disc is observed (stage 3). Patients may also present with photophobia, nystagmus and myopia.
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:0010932
- MeSH:C535356
- OMIM:600790
- UMLS:C1833321
Additional Mondo synonyms (1)
progressive bifocal chorioretinal atrophy
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 — PRDM13
- LiteraturePresent
93 matched papers (48 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 (PRDM13).
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?
93
93 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.
93 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).
48 in the last 10 years · high confidence · 52.7th percentile (publications denominator)
Phrase hits: 93 · MeSH hits: 0
Who's working on it?
550
Distinct author names in 93 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.
- 01Moore AT8 papers · 2019
1] Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK [2] Moorfields Eye Hospital, London, UK [3] Department of Ophthalmology, Great Ormond Street Hospital, London, UK [4] Department of Ophthalmology, University of California, San Francisco, CA, USA.
Papers in Europe PMC - 02Hunt DM7 papers · 2020
Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
Papers in Europe PMC - 03Kelsell RE5 papers · 1998
Department of Molecular Genetics, University of London, UK.
Papers in Europe PMC - 04Small KW5 papers · 2024
Macula and Retina Institute, Glendale and Los Angeles, CA.
Papers in Europe PMC - 05Bird AC4 papers · 1998Papers in Europe PMC
- 06MacLaren RE4 papers · 2023
Nuffield Laboratory of Ophthalmology, University of Oxford and Oxford Eye Hospital, Oxford University NHS Trust NIHR Biomedical Research Centre, Oxford, UK ; Moorfields Eye Hospital NIHR Biomedical Research Centre, London, UK.
Papers in Europe PMC - 07
- 08Weber BH4 papers · 1998Papers in Europe PMC
- 09Avetisjan J3 papers · 2023
Macula and Retina Institute, Glendale and Los Angeles, CA.
Papers in Europe PMC - 10Cook GM3 papers · 2019
Department of Microbiology and Immunology, Otago School of Medical Sciences, University of Otago, Dunedin, New Zealand.
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.
high 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.
"Progressive bifocal chorioretinal atrophy" OR "CRAPB" OR "PBCRA"
MeSH descriptor terms unioned into the query: Chorioretinal atrophy, progressive bifocal
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive bifocal chorioretinal atrophy" OR "CRAPB" OR "PBCRA" OR "Chorioretinal atrophy, progressive bifocal" OR "PRDM13"
Recall-expansion terms: PRDM13
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:47:14.464Z