ArticleOrphanet journal of rare diseases2024
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 8 citations in OpenAlex.
- Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.Acta ophthalmologica · 2026Article
- Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).International journal of molecular sciences · 2026Article
- Article
- Genotype-phenotype correlations in Chinese patients with congenital stationary night blindness and early-onset high myopia: evidence from electrophysiology and whole-exome sequencing.International journal of ophthalmology · 2026Article
- Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Investigative ophthalmology & visual science · 2025Article
- Review
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.Life science alliance · 2025Article
- [A rare differential diagnosis of suspected hereditary optic nerve atrophy].Die Ophthalmologie · 2025Article
- Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundCongenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSNB and investigate myopic progression under genetic cause.
resultsSixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes were NYX, CACNA1F, and TRPM1. Myopia (96.61%, 57/59) was the most common clinical finding, followed by nystagmus (62.71%, 37/59), strabismus (52.54%, 31/59), and nyctalopia (49.15%, 29/59). An average SE of -7.73 ± 3.37 D progressed to -9.14 ± 2.09 D in NYX patients with myopia, from - 2.24 ± 1.53 D to -4.42 ± 1.43 D in those with CACNA1F, and from - 5.21 ± 2.89 D to -9.24 ± 3.16 D in those with TRPM1 during the 3-year follow-up; the TRPM1 group showed the most rapid progression.
conclusionsHigh myopia and strabismus are distinct clinical features of CSNB that are helpful for diagnosis. The novel variants identified in this study will further expand the knowledge of variants in CSNB and help explore the molecular mechanisms of CSNB.
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