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exudative vitreoretinopathy 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

exudative vitreoretinopathy 5

MONDO:0013218

Also known as:TSPAN12 exudative vitreoretinopathyexudative vitreoretinopathy caused by mutation in TSPAN12exudative vitreoretinopathy type 5

Overview

Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.

GeneticsAutosomal dominant · TSPAN12 (chr 7)

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 common findings: Falciform retinal fold, Reduced visual acuity, and Visual impairment; and sometimes findings: Shallow anterior chamber and Tractional retinal detachment. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Tractional retinal detachment, Falciform retinal fold, Visual impairment

Explore clinical features

Genetic Landscape

TSPAN12 function has not been fully characterized.

Exudative vitreoretinopathy 5 is associated with mutations in the TSPAN12 gene on chromosome 7.

Diagnosis

Genetic testing for TSPAN12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for exudative vitreoretinopathy 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 5.

57 publications have been identified in PubMed for exudative vitreoretinopathy 5. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (19%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Patient case studies	22	39%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613310

GARD

Genetic and Rare Diseases Info Center

GARD:15646

Questions for Your Care Team

→Should I pursue genetic testing for TSPAN12, 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 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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