OPN1LW

OPN1LW encodes opsin 1, long wave sensitive (364 aa). Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal Highest expression in Testis (0.1 TPM) and Kidney Medulla (0.0 TPM).

Blue cone monochromacy is associated with mutations in the OPN1LW gene on chromosome X.

The OPN1LW protein participates in Defective OPN1LW does not bind 11cRAL and Light stimulates opsin receptors pathways.

OPN1LW is classified as a druggable target (Druggable Genome, G Protein Coupled Receptor, and Transporter categories) with score 20.9.

OPN1MW

OPN1MW encodes opsin 1, medium wave sensitive (364 aa). Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal Highest expression in Adipose Subcutaneous (0.0 TPM) and Adipose Visceral Omentum (0.0 TPM).

Blue cone monochromacy is associated with mutations in the OPN1MW gene on chromosome X.

The OPN1MW protein participates in Defective OPN1MW does not bind 11cRAL, Light stimulates opsin receptors, and OPN1MW LOF variants pathways.

OPN1MW is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 6.5.

Genetic testing for OPN1LW, OPN1MW is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for blue cone monochromacy has been reported in the published literature.

No approved treatments are currently available for blue cone monochromacy. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for blue cone monochromacy, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for blue cone monochromacy. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for blue cone monochromacy have been reported in the published literature.

Phenotype severity distribution: 1 very common feature, 5 common features.

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

No clinical trials have been registered for blue cone monochromacy.

11 publications have been identified in PubMed for blue cone monochromacy. Research spans Gene Therapy / Novel Therapeutics (36%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (18%).

Recent Publications

• Cahill ME (2026). [PMID: 42157965](https://pubmed.ncbi.nlm.nih.gov/42157965/). *Mol Ther Adv*. [Gene Therapy / Novel Therapeutics]

• Vasudevan S (2026). [PMID: 41941983](https://pubmed.ncbi.nlm.nih.gov/41941983/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]

• Deng WT (2025). [PMID: 40297680](https://pubmed.ncbi.nlm.nih.gov/40297680/). *Research square*. [Basic Science / Preclinical]

• Hartung KJ (2025). [PMID: 40736816](https://pubmed.ncbi.nlm.nih.gov/40736816/). *Advances in experimental medicine and biology*. [Epidemiology / Natural History]

• Brothers BA (2025). [PMID: 39990432](https://pubmed.ncbi.nlm.nih.gov/39990432/). *bioRxiv : the preprint server for biology*. [Gene Therapy / Novel Therapeutics]

• Wu V (2025). [PMID: 41104957](https://pubmed.ncbi.nlm.nih.gov/41104957/). *Investigative ophthalmology & visual science*. [Epidemiology / Natural History]

• Brothers BA (2025). [PMID: 41286353](https://pubmed.ncbi.nlm.nih.gov/41286353/). *Communications biology*. [Gene Therapy / Novel Therapeutics]

• Azmon R (2025). [PMID: 40935931](https://pubmed.ncbi.nlm.nih.gov/40935931/). *Eye (London, England)*. [Review / Meta-Analysis]

• Hotta Y (2024). [PMID: 39271608](https://pubmed.ncbi.nlm.nih.gov/39271608/). *Japanese journal of ophthalmology*. [Basic Science / Preclinical]

• Cideciyan AV (2024). [PMID: 39408969](https://pubmed.ncbi.nlm.nih.gov/39408969/). *International journal of molecular sciences*. [Gene Therapy / Novel Therapeutics]