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Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.
Features include always present findings: Congenital stationary night blindness. 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Pigmentary retinopathy, Congenital stationary night blindness, Macular atrophy |
Pregnancy and birth | 1 | Congenital stationary night blindness |
Muscles | 1 | Macular atrophy |
SLC24A1 function has not been fully characterized.
Congenital stationary night blindness 1D is associated with mutations in the SLC24A1 gene on chromosome 15.
Genetic testing for SLC24A1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for congenital stationary night blindness 1D.
2 publications have been identified in PubMed for congenital stationary night blindness 1D. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).
Dvoriantchikova G (2025). [PMID: 40053367](https://pubmed.ncbi.nlm.nih.gov/40053367/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
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, 3:02 PM UTC
Online Mendelian Inheritance in Man
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