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exudative vitreoretinopathy 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

exudative vitreoretinopathy 6

MONDO:0014652

Also known as:ZNF408 exudative vitreoretinopathyexudative vitreoretinopathy caused by mutation in ZNF408exudative vitreoretinopathy type 6

Overview

Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.

GeneticsAutosomal dominant · ZNF408 (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 always present findings: Exudative vitreoretinopathy; and common findings: Retinal detachment, Esodeviation, Horizontal nystagmus, and Myopia and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	10	Retinal detachment, Tractional retinal detachment, Falciform retinal fold

Genetic Landscape

ZNF408 function has not been fully characterized.

Exudative vitreoretinopathy 6 is associated with mutations in the ZNF408 gene on chromosome 11.

Diagnosis

Genetic testing for ZNF408 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for exudative vitreoretinopathy 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 5 common features.

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 6.

50 publications have been identified in PubMed for exudative vitreoretinopathy 6. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (26%), and Clinical Trial Publication (16%).

Research Type	Count	% of Total
Patient case studies	15	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616468

GARD

Genetic and Rare Diseases Info Center

GARD:16118

Questions for Your Care Team

→Should I pursue genetic testing for ZNF408, and what would the results mean for my family?
→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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exudative vitreoretinopathy 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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