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keratoconus 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

keratoconus 1

MONDO:0007851

Also known as:VSX1 keratoconus (disease)keratoconus (disease) caused by mutation in VSX1keratoconus type 1

Overview

Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.

GeneticsAutosomal dominant · VSX1 (chr 20)

Clinical Presentation

Features include: Astigmatism and Keratoconus.

Organ System	Phenotype Count	Example Features
Eyes	1	Keratoconus

Explore clinical features

Genetic Landscape

VSX1 function has not been fully characterized.

Keratoconus 1 is associated with mutations in the VSX1 gene on chromosome 20.

Diagnosis

Genetic testing for VSX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for keratoconus 1 has been reported in the published literature.

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 keratoconus 1.

46 publications have been identified in PubMed for keratoconus 1. Research spans Clinical Trial Publication (33%), Basic Science / Preclinical (28%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Clinical study results	15	33%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:148300

Questions for Your Care Team

→Should I pursue genetic testing for VSX1, 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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keratoconus 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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