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Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.
Features include always present findings: Congenital stationary night blindness and Moderate myopia. 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Congenital stationary night blindness |
Pregnancy and birth | 1 | Congenital stationary night blindness |
PDE6B function has not been fully characterized.
Congenital stationary night blindness autosomal dominant 2 is associated with mutations in the PDE6B gene on chromosome 4.
Genetic testing for PDE6B is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features.
No clinical trials have been registered for congenital stationary night blindness autosomal dominant 2.
8 publications have been identified in PubMed for congenital stationary night blindness autosomal dominant 2. Research spans Basic Science / Preclinical (38%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (25%).
Kessel L (2026). [PMID: 42272130](https://pubmed.ncbi.nlm.nih.gov/42272130/). *Ophthalmic Genet*. [Epidemiology / Natural History]
Durajczyk M (2025). [PMID: 40004769](https://pubmed.ncbi.nlm.nih.gov/40004769/). *J Clin Med*. [Review / Meta-Analysis]
Wen L (2025). [PMID: 39652271](https://pubmed.ncbi.nlm.nih.gov/39652271/). *Doc Ophthalmol*. [Case Report / Case Series]
Wong WM (2025). [PMID: 40013354](https://pubmed.ncbi.nlm.nih.gov/40013354/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Priglinger CS (2024). [PMID: 39596324](https://pubmed.ncbi.nlm.nih.gov/39596324/). *Int J Mol Sci*. [Epidemiology / Natural History]
Bighinati A (2024). [PMID: 39197629](https://pubmed.ncbi.nlm.nih.gov/39197629/). *Int J Biol Macromol*. [Basic Science / Preclinical]
Hu H (2024). [PMID: 39055259](https://pubmed.ncbi.nlm.nih.gov/39055259/). *Front Genet*. [Basic Science / Preclinical]
Park Y (2024). [PMID: 39451534](https://pubmed.ncbi.nlm.nih.gov/39451534/). *Curr Issues Mol Biol*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:10 PM UTC
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