Familial exudative vitreoretinopathy

disorder

SNOMED 232063007CUI C0339539

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Familial Exudative Vitreoretinopathies" from the MEDLINE/PubMed database.

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Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.

[object Object], [object Object], [object Object] et al. · PLoS One · 2022

PMID: 35830446Meta-AnalysisFull text (PMC)

The diagnostic value of ultra-widefield fundus imaging technology in early familial exudative vitreoretinopathy.

[object Object], [object Object], [object Object] · Ophthalmic Genet · 2025

PMID: 40624769Review

Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management.

[object Object], [object Object], [object Object] · Clin Exp Ophthalmol · 2025

PMID: 39837650ReviewFull text (PMC)

Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.

[object Object], [object Object], [object Object] et al. · Prog Retin Eye Res · 2025

PMID: 40623591Review

Novel Exon 7 Deletions inin a Three-Generation FEVR Family: A Case Report and Literature Review.

[object Object], [object Object] · Genes (Basel) · 2023

PMID: 36980859ReviewFull text (PMC)

A Literary Pediatric Retina Fellowship With Michael T. Trese, MD.

[object Object], [object Object], [object Object] et al. · Ophthalmic Surg Lasers Imaging Retina · 2023

PMID: 38113364Review

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.

[object Object], [object Object], [object Object] et al. · Cells · 2023

PMID: 37947657ReviewFull text (PMC)

Familial exudative vitreoretinopathy and related retinopathies.

[object Object] · Eye (Lond) · 2015

PMID: 25323851ReviewFull text (PMC)

[Retinal exudative disease in childhood: Coats' disease and familial exudative vitreoretinopathy (FEVR)].

[object Object], [object Object], [object Object] et al. · Klin Monbl Augenheilkd · 2013

PMID: 23986189Review

EXCISION OF EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH RHEGMATOGENOUS RETINAL DETACHMENTS IN PATIENTS WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.

[object Object], [object Object], [object Object] · Retina · 2026

PMID: 40953312Other

Search all PubMed articles for Familial exudative vitreoretinopathy

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Vitreoretinopathy

Always present (100%)HP:0007773

Peripheral retinal avascularization

Very frequent (80-99%)HP:0007685

Abnormal optic disc morphology

Frequent (30-79%)HP:0012795

Decreased visual acuity

Frequent (30-79%)HP:0007663

Falciform retinal fold

Frequent (30-79%)HP:0001493

Retinal neovascularisation

Frequent (30-79%)HP:0030666

Subretinal fluid

Frequent (30-79%)HP:0031526

Tractional retinal detachment

Frequent (30-79%)HP:0007917

Cataract

Occasional (5-29%)HP:0000518

Chorioretinal atrophy

Occasional (5-29%)HP:0000533

Deafness

Occasional (5-29%)HP:0000365

Decreased bone mineral density Z score

Occasional (5-29%)HP:0004349

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased size of eyeball

Occasional (5-29%)HP:0000568

Legal blindness

Occasional (5-29%)HP:0000618

Lymphoedema

Occasional (5-29%)HP:0001004

Macular exudate

Occasional (5-29%)HP:0030496

Macular oedema

Occasional (5-29%)HP:0040049

Macular pucker

Occasional (5-29%)HP:0100014

Macular telangiectasia

Occasional (5-29%)HP:0030503

Mental retardation, mild

Occasional (5-29%)HP:0001256

No development of motor milestones

Occasional (5-29%)HP:0001270

Psychomotor retardation, mild

Occasional (5-29%)HP:0011342

Rhegmatogenous retinal detachment

Occasional (5-29%)HP:0012230

Severely impaired vision

Occasional (5-29%)HP:0001141

Vitreous debris

Occasional (5-29%)HP:0100832

Vitreous hemorrhage

Occasional (5-29%)HP:0007902

Related Conditions

Hereditary vitreoretinopathy(parent)

Quick Facts

SNOMED CT: 232063007
UMLS CUI: C0339539
Fully Specified Name: Familial exudative vitreoretinopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.