Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

night blindness, congenital stationary, type1i - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

night blindness, congenital stationary, type1i

MONDO:0032811

Also known as:CSNB1Inight blindness, congenital stationary, type 1I

Overview

GeneticsAutosomal recessive · GUCY2D (chr 17)

OnsetCHILDHOOD

Clinical Presentation

Features include always present findings: Nyctalopia; and common findings: Tritanomaly.

Age of onset: childhood.

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.

GUCY2D encodes guanylate cyclase 2D, retinal (1,103 aa). Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment. Highest expression in Testis (2.4 TPM) and Esophagus Mucosa (0.7 TPM).

Night blindness, congenital stationary, type1i is associated with mutations in the GUCY2D gene on chromosome 17.

The GUCY2D protein participates in GUCYs converts GTP to cGMP pathway.

GUCY2D is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Transporter categories) with score 17.4.

Diagnosis

Genetic testing for GUCY2D is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for night blindness, congenital stationary, type1i has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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 night blindness, congenital stationary, type1i.

39 publications have been identified in PubMed for night blindness, congenital stationary, type1i. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (23%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Laboratory research	13	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618555

GARD

Genetic and Rare Diseases Info Center

GARD:16364

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

night blindness, congenital stationary, type1i

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

Recent Publications