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Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.
Features include always present findings: Congenital stationary night blindness. 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 1 | Bone spicule pigmentation of the retina |
Eyes | 1 | Congenital stationary night blindness |
Pregnancy and birth | 1 | Congenital stationary night blindness |
RHO function has not been fully characterized.
Congenital stationary night blindness autosomal dominant 1 is associated with mutations in the RHO gene on chromosome 3.
Genetic testing for RHO 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 autosomal dominant 1.
8 publications have been identified in PubMed for congenital stationary night blindness autosomal dominant 1. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).
Mariscal J (2026). [PMID: 41110996](https://pubmed.ncbi.nlm.nih.gov/41110996/). *Ophthalmic Genet*. [Case Report / Case Series]
Daich Varela M (2025). [PMID: 40736177](https://pubmed.ncbi.nlm.nih.gov/40736177/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Wong WM (2025). [PMID: 40013354](https://pubmed.ncbi.nlm.nih.gov/40013354/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Durajczyk M (2025). [PMID: 40004769](https://pubmed.ncbi.nlm.nih.gov/40004769/). *J Clin Med*. [Review / Meta-Analysis]
Cheong J (2025). [PMID: 40736815](https://pubmed.ncbi.nlm.nih.gov/40736815/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Mihalich A (2024). [PMID: 38927702](https://pubmed.ncbi.nlm.nih.gov/38927702/). *Genes (Basel)*. [Epidemiology / Natural History]
Chai Z (2024). [PMID: 38743626](https://pubmed.ncbi.nlm.nih.gov/38743626/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Bighinati A (2024). [PMID: 39197629](https://pubmed.ncbi.nlm.nih.gov/39197629/). *Int J Biol Macromol*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC
Online Mendelian Inheritance in Man
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