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myopia 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopia 6

MONDO:0012154

Also known as:SCO2 myopia (disease)myopia (disease) caused by mutation in SCO2myopia type 6

Overview

Any myopia in which the cause of the disease is a mutation in the SCO2 gene.

GeneticsAutosomal dominant · SCO2 (chr 22)

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: Abnormal fundus morphology, High myopia, Reduced visual acuity, and Increased axial length of the globe. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Skeletal muscle atrophy, Low muscle tone (hypotonia), Muscle weakness

Genetic Landscape

SCO2 function has not been fully characterized.

Myopia 6 is associated with mutations in the SCO2 gene on chromosome 22.

Diagnosis

Genetic testing for SCO2 is available. Testing is considered confirmatory for diagnosis.

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

Prognosis

Phenotype severity distribution: 4 always present 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 myopia 6.

134 publications have been identified in PubMed for myopia 6. Kisho has analyzed 50 by research type. Research spans Clinical Trial Publication (26%), Epidemiology / Natural History (26%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Clinical study results	13	26%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608908

GARD

Genetic and Rare Diseases Info Center

GARD:9937

Questions for Your Care Team

→Should I pursue genetic testing for SCO2, 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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myopia 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

myopia 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