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blue color blindness - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blue color blindness

MONDO:0008610

Also known as:congenital tritanopiatritan color blindnesstritan colour blindness

Overview

Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision.

GeneticsAutosomal dominant · OPN1SW (chr 7)

ResearchLimited published research (9 articles)

Clinical Presentation

Features include: Tritanomaly, Color vision defect, Abnormal light-adapted electroretinogram, and Dyschromatopsia.

Organ System	Phenotype Count	Example Features
Eyes	1	Color vision defect

Explore clinical features

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.

OPN1SW encodes opsin 1, short wave sensitive (345 aa). Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal (Probable). Highest expression in Esophagus Muscularis (5.5 TPM) and Artery Tibial (5.4 TPM).

Blue color blindness is associated with mutations in the OPN1SW gene on chromosome 7.

The OPN1SW protein participates in Defective OPN1SW does not bind 11cRAL and Light stimulates opsin receptors pathways.

OPN1SW is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 13.1.

Diagnosis

Genetic testing for OPN1SW is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for blue color blindness has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 blue color blindness.

9 publications have been identified in PubMed for blue color blindness. Research spans Diagnostic / Biomarker (22%), Epidemiology / Natural History (22%), and Other (11%).

Recent Publications

Warszawer Y (2026). [PMID: 41317340](https://pubmed.ncbi.nlm.nih.gov/41317340/). *Eur Neurol*. [Other]
Paramei GV (2025). [PMID: 40793513](https://pubmed.ncbi.nlm.nih.gov/40793513/). *Journal of the Optical Society of America. A, Optics, image science, and vision*. [Epidemiology / Natural History]
Hartung KJ (2025). [PMID: 40736816](https://pubmed.ncbi.nlm.nih.gov/40736816/). *Advances in experimental medicine and biology*. [Case Report / Case Series]
Parente JR (2025). [PMID: 40716133](https://pubmed.ncbi.nlm.nih.gov/40716133/). *Vision research*. [Diagnostic / Biomarker]
Ba-Abbad R (2025). [PMID: 40478561](https://pubmed.ncbi.nlm.nih.gov/40478561/). *Investigative ophthalmology & visual science*. [Clinical Trial Publication]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:190900

Orphanet

European rare disease database

Orphanet:88629

GARD

Genetic and Rare Diseases Info Center

GARD:16768

Questions for Your Care Team

→Should I pursue genetic testing for OPN1SW, 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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blue color blindness

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team