Information on RVCL
Basic details
Name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | Acronym: RVCL
Alt. names: TREX1 deficiency | Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
Gene: TREX1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2007
Last updated on: 2023-02-28 16:41:18 by
Description
RVCL is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Dementia |
33 (47.1%) | 0 (0.0%) | 37 (52.9%) |
| 2 | Raynaud phenomenon |
31 (42.5%) | 0 (0.0%) | 42 (57.5%) |
| 3 | Migraine |
28 (52.8%) | 0 (0.0%) | 25 (47.2%) |
| 4 | Gastrointestinal bleeding |
9 (11.7%) | 0 (0.0%) | 68 (88.3%) |
| 5 | Seizures |
9 (13.6%) | 0 (0.0%) | 57 (86.4%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.