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exudative vitreoretinopathy 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

exudative vitreoretinopathy 4

MONDO:0011151

Also known as:exudative vitreoretinopathy type 4EVR4

Overview

GeneticsAutosomal recessive, Autosomal dominant · LRP5 (chr 11)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Vitreous hemorrhage, Tractional retinal detachment, Falciform retinal fold, and Mild bone density loss (osteopenia) and 8 more.

Organ System	Phenotype Count	Example Features
Eyes	7	Tractional retinal detachment, Falciform retinal fold, Blindness

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LRP5 encodes LDL receptor related protein 5 (1,615 aa). Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins. Highest expression in Artery Aorta (83.2 TPM) and Artery Tibial (67.8 TPM).

Exudative vitreoretinopathy 4 is associated with mutations in the LRP5 gene on chromosome 11.

The LRP5 protein participates in LRP5 D666_L809del, Signaling by LRP5 mutants, and Negative regulation of TCF-dependent signaling by WNT ligand antagonists pathways.

LRP5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LRP5 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for exudative vitreoretinopathy 4.

52 publications have been identified in PubMed for exudative vitreoretinopathy 4. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (27%), and Clinical Trial Publication (19%).

Research Type	Count	% of Total
Laboratory research	21	40%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601813

GARD

Genetic and Rare Diseases Info Center

GARD:15337

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

exudative vitreoretinopathy 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

exudative vitreoretinopathy 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications