exudative vitreoretinopathy
Findings
No curated finding names exudative vitreoretinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
Definition from the Mondo Disease Ontology (MONDO:0019516), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- VitreoretinopathyHPOHP:0007773
- Obligate (100% of cases)
- Avascular peripheral retinaHPOHP:0007685
- Very frequent (80% to 99% of cases)
- Abnormal optic disc morphologyHPOHP:0012795
- Frequent (30% to 79% of cases)
- Falciform retinal foldHPOHP:0001493
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- Retinal neovascularizationHPOHP:0030666
- Frequent (30% to 79% of cases)
- Subretinal fluidHPOHP:0031526
- Frequent (30% to 79% of cases)
- Tractional retinal detachmentHPOHP:0007917
- Frequent (30% to 79% of cases)
- BlindnessHPOHP:0000618
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Chorioretinal atrophyHPOHP:0000533
- Occasional (5% to 29% of cases)
- Epiretinal membraneHPOHP:0100014
- Occasional (5% to 29% of cases)
Show the remaining 15
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
- LymphedemaHPOHP:0001004
- Occasional (5% to 29% of cases)
- Macular edemaHPOHP:0040049
- Occasional (5% to 29% of cases)
- Macular exudateHPOHP:0030496
- Occasional (5% to 29% of cases)
- Macular telangiectasiaHPOHP:0030503
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTNNB1HGNC:2514
- Definitive · G2P · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
- FZD4HGNC:4042
- Supportive · Orphanet · Autosomal dominant · 2021
- LRP5HGNC:6697
- Supportive · Orphanet · Autosomal dominant · 2021
- NDPHGNC:7678
- Supportive · Orphanet · Autosomal dominant · 2021
- TSPAN12HGNC:21641
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (9)
Other names
3 names
Resolves to: exudative vitreoretinopathy
- Also called
- Criswick-Schepens syndromefamilial exudative vitreoretinopathyFEVR