ORPHA:75326
Familial isolated retinal arteriolar tortuosity
Also known as: Familial retinal arteriolar tortuosity · Retinal arteriolar tortuosity · Retinal hemorrhage with vascular tortuosity · Tortuosity of retinal arteries
Publications
432
84.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,253
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.
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:0008373
- OMIM:180000
- UMLS:C0423401
Additional Mondo synonyms (6)
retinal arterial tortuosity · retinal arterial tortuosity (disease) · retinal arteriolar tortuosity · retinal haemorrhage with vascular tortuosity · retinal hemorrhage with vascular tortuosity · tortuosity of retinal arteries
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
432 matched papers (289 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
432
432 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.
432 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).
289 in the last 10 years · medium confidence · 84.3th percentile (publications denominator)
Phrase hits: 432 · MeSH hits: 0
Who's working on it?
1,253
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.
- 01Mowat FM6 papers · 2026
Department of Clinical Sciences, North Carolina State University College of Veterinary Medicine, Raleigh, NC, USA.
Papers in Europe PMC - 02Wong TY6 papers · 2023
a Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne , Melbourne , Victoria , Australia .
Papers in Europe PMC - 03Cheung CY4 papers · 2026
c Singapore Eye Research Institute, Singapore National Eye Centre , Singapore .
Papers in Europe PMC - 04Gaudric A4 papers · 2025
Ophthalmology Department, Hôpital Lariboisière, APHP and Université Paris-Cité, France.
Papers in Europe PMC - 05Plaisier E4 papers · 2009
INSERM Unit 489; Departments of Neurology, and Nephrology, Tenon Hospital (AP-HP), Paris, France. emmanuelle.plaisier@tnn.ap-hop-paris.fr
Papers in Europe PMC - 06Cai Y3 papers · 2026
Department of Ophthalmology, The First Affiliated Hospital of Guangxi Medical University, Nanning 513200, Guangxi Zhuang Autonomous Region, China.
Papers in Europe PMC - 07Chen C3 papers · 2024
Department of Medical Informatics, Medical School of Nantong University, Nantong, China.
Papers in Europe PMC - 08Foster ML3 papers · 2020
Department of Clinical Sciences, North Carolina State University College of Veterinary Medicine, Raleigh, NC, USA.
Papers in Europe PMC - 09Ronco P3 papers · 2009
Department of Nephrology and Dialysis INSERM UMR S1155 Hôpital Tenon Université Pierre et Marie Curie Paris, France
Papers in Europe PMC - 10Sasongko MB3 papers · 2016
Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia.
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.
"Familial isolated retinal arteriolar tortuosity" OR "Familial retinal arteriolar tortuosity" OR "Retinal arteriolar tortuosity" OR "Retinal hemorrhage with vascular tortuosity" OR "Tortuosity of retinal arteries" OR "Tortuosity of the retinal arteries" OR "retinal arterial tortuosity" OR "retinal arterial tortuosity (disease)" OR "retinal haemorrhage with vascular tortuosity"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial isolated retinal arteriolar tortuosity" OR "Familial retinal arteriolar tortuosity" OR "Retinal arteriolar tortuosity" OR "Retinal hemorrhage with vascular tortuosity" OR "Tortuosity of retinal arteries" OR "Tortuosity of the retinal arteries" OR "retinal arterial tortuosity" OR "retinal arterial tortuosity (disease)" OR "retinal haemorrhage with vascular tortuosity"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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
- Publication count (432) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T01:46:49.659Z