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congenital stationary night blindness 1F - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital stationary night blindness 1F

MONDO:0014026

Also known as:CSNB1FLRIT3 congenital stationary night blindnesscongenital stationary night blindness 1F autosomal recessive

Overview

Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.

GeneticsAutosomal recessive · LRIT3 (chr 4)

ResearchLimited published research (9 articles)

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: Nyctalopia, Reduced visual acuity, Congenital stationary night blindness, and High myopia; and common findings: Strabismus, Retinal perforation, and Electronegative electroretinogram.

Organ System	Phenotype Count	Example Features
Eyes	3	Strabismus, Retinal perforation, Congenital stationary night blindness

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.

LRIT3 encodes leucine rich repeat, Ig-like and transmembrane domains 3 (679 aa). Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells. Highest expression in Brain Cerebellum (1.7 TPM) and Brain Cerebellar Hemisphere (1.7 TPM).

Congenital stationary night blindness 1F is associated with mutations in the LRIT3 gene on chromosome 4.

LRIT3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LRIT3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 3 common 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 congenital stationary night blindness 1F.

9 publications have been identified in PubMed for congenital stationary night blindness 1F. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (11%), and Epidemiology / Natural History (11%).

Recent Publications

Spanic F (2026). [PMID: 41729106](https://pubmed.ncbi.nlm.nih.gov/41729106/). *Acta Ophthalmol*. [Basic Science / Preclinical]
Hasan N (2026). [PMID: 42055330](https://pubmed.ncbi.nlm.nih.gov/42055330/). *J Biol Chem*. [Basic Science / Preclinical]
Taha I (2026). [PMID: 42106701](https://pubmed.ncbi.nlm.nih.gov/42106701/). *BMC Ophthalmol*. [Review / Meta-Analysis]
Rodgers J (2025). [PMID: 39825567](https://pubmed.ncbi.nlm.nih.gov/39825567/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Sundaramurthy S (2025). [PMID: 40551348](https://pubmed.ncbi.nlm.nih.gov/40551348/). *Acta Ophthalmol*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615058

GARD

Genetic and Rare Diseases Info Center

GARD:15899

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?

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congenital stationary night blindness 1F

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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